Table 3 Pathogenicity Assessment in Silico of ACTG1 c.638A > G (p.K213R)
From: Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation
Tools | Pathogenicity | Functional Prediction Scores/Conservation scores |
|---|---|---|
SIFT | Damaging | 0 |
PolyPhen | Probably damaging | 0.947 |
MutationTaster | Disease causing | 0.999324 |
MutationAssessor | Deleterioius | 4.105 |
LRT | Deleterioius | 0 |
FATHMM | Deleterioius | −4.81 |
GERP+ | 4.56 | |
PhyloP | Not conserved | 1.72 |
SiPhy | 12.999 | |
GERP | 4.56 | |
phastCons | Conserved | 1 |