G57A (p.Gly57Ala) variant of KRT2 (P35908)
G57A (p.Gly57Ala) 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.
G57A (p.Gly57Ala) variant details
- p.Gly57Ala
- TOPMed rs1242487698
- gnomAD rs1242487698
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.36
- CADD 17.00
- PolyPhen-2 0.14
- SIFT 0.11
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available