G115R (p.Gly115Arg) variant of KRT2 (P35908)
G115R (p.Gly115Arg) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G115R (p.Gly115Arg) variant details
- p.Gly115Arg
- ExAC rs761267359
- gnomAD rs761267359
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.37
- CADD 22.60
- PolyPhen-2 0.97
- SIFT 0.04
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available