G57S (p.Gly57Ser) variant of KRT2 (P35908)
G57S (p.Gly57Ser) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
G57S (p.Gly57Ser) variant details
- p.Gly57Ser
- TOPMed rs1476306102
- gnomAD rs1476306102
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.27
- CADD 11.20
- PolyPhen-2 0.04
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available