G112V (p.Gly112Val) variant of KRT2 (P35908)
G112V (p.Gly112Val) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
G112V (p.Gly112Val) variant details
- p.Gly112Val
- ESP rs376461950
- ExAC rs376461950
- TOPMed rs376461950
- gnomAD rs376461950
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.36
- CADD 14.60
- PolyPhen-2 0.55
- SIFT 0.45
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available