R35G (p.Arg35Gly) variant of KRT2 (P35908)
R35G (p.Arg35Gly) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
R35G (p.Arg35Gly) variant details
- p.Arg35Gly
- ExAC rs779176929
- TOPMed rs779176929
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.20
- CADD 12.40
- PolyPhen-2 0.04
- SIFT 0.52
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available