G111S (p.Gly111Ser) variant of KRT2 (P35908)
G111S (p.Gly111Ser) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
G111S (p.Gly111Ser) variant details
- p.Gly111Ser
- TOPMed rs1243502300
- gnomAD rs1243502300
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.37
- CADD 13.10
- PolyPhen-2 0.29
- SIFT 0.37
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available