G50D (p.Gly50Asp) variant of KRT2 (P35908)
G50D (p.Gly50Asp) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
G50D (p.Gly50Asp) variant details
- p.Gly50Asp
- gnomAD rs1319620796
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.43
- CADD 16.20
- PolyPhen-2 0.42
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available