G57D (p.Gly57Asp) variant of KRT2 (P35908)
G57D (p.Gly57Asp) 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.
G57D (p.Gly57Asp) variant details
- p.Gly57Asp
- TOPMed rs1242487698
- gnomAD rs1242487698
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.42
- CADD 23.20
- PolyPhen-2 0.53
- SIFT 0.01
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available