G117A (p.Gly117Ala) variant of KRT2 (P35908)
G117A (p.Gly117Ala) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G117A (p.Gly117Ala) variant details
- p.Gly117Ala
- TOPMed rs1460209702
- gnomAD rs1460209702
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.22
- CADD 13.20
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available