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PolyPhen-2
PolyPhen-2
"PolyPhen-2 (Polymorphism Phenotyping v2) is a tool which predicts possible impact of an amino acid substitution on the structure and function of a human protein using straightforward physical and comparative considerations. "
"PolyPhen-2 (Polymorphism Phenotyping v2) is a tool which predicts possible impact of an amino acid substitution on the structure and function of a human protein using straightforward physical and comparative considerations. "
SIFT
SIFT
"SIFT predicts whether an amino acid substitution affects protein function based on sequence homology and the physical properties of amino acids. SIFT can be applied to naturally occurring nonsynonymous polymorphisms and laboratory-induced missense mutations."
"SIFT predicts whether an amino acid substitution affects protein function based on sequence homology and the physical properties of amino acids. SIFT can be applied to naturally occurring nonsynonymous polymorphisms and laboratory-induced missense mutations."
fathmm
fathmm
"Functional Analysis through Hidden Markov Models (v2.3). A high-throughput web-server capable of predicting the functional consequences of both coding variants, i.e. non-synonymous single nucleotide variants (nsSNVs), and non-coding variants in the human genome."
"Functional Analysis through Hidden Markov Models (v2.3). A high-throughput web-server capable of predicting the functional consequences of both coding variants, i.e. non-synonymous single nucleotide variants (nsSNVs), and non-coding variants in the human genome."
MutPred2
MutPred2
"MutPred2 is a standalone and web application developed to classify amino acid substitutions as pathogenic or benign in human. In addition, it predicts their impact on over 50 different protein properties and, thus, enables the inference of molecular mechanisms of pathogenicity."
"MutPred2 is a standalone and web application developed to classify amino acid substitutions as pathogenic or benign in human. In addition, it predicts their impact on over 50 different protein properties and, thus, enables the inference of molecular mechanisms of pathogenicity."
MutationTaster
MutationTaster
"MutationTaster is explicitly aimed at biomedical researchers who want to identify the pathological mutation(s) in a patient suffering from a suspected monogenic disease. Unlike other tools such as CADD, we provide a binary prediction (deleterious or benign) and present the information associated with a given variant (e.g. evolutionary conservation or altered splicing) in a user-readable interface. " Link
"MutationTaster is explicitly aimed at biomedical researchers who want to identify the pathological mutation(s) in a patient suffering from a suspected monogenic disease. Unlike other tools such as CADD, we provide a binary prediction (deleterious or benign) and present the information associated with a given variant (e.g. evolutionary conservation or altered splicing) in a user-readable interface. " Link
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