Nucleotide variation: NM_001793.5:c.613G > A Amino-acid variation: p.Val205Met Mutation type: nonsynonymous SNV Exon: 6 | |
---|---|
In silico predictors | Prediction (score) |
SIFT | Deleterious (0) |
Polyphen | Deleterious (1) |
Mutation Taster | Deleterious (1) |
Align GVGD | Tolerated (Class 0) |
PROVEAN | Deleterious (−2.81) |
CADD | Deleterious (22.8) |
MCAP | Deleterious (0.086) |
LRT | Tolerated (0.244) |
MutationAssessor | Deleterious (3415) |
MetaLR | Deleterious (0.58) |
fathmm-MKL | Deleterious (0.994) |
MetaSVM | Deleterious (0.301) |