G114V (p.Gly114Val) variant of KRT2 (P35908)
G114V (p.Gly114Val) in KRT2 (P35908) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
G114V (p.Gly114Val) variant details
- p.Gly114Val
- ExAC rs766757284
- TOPMed rs766757284
- gnomAD rs766757284
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.58
- CADD 21.20
- PolyPhen-2 0.97
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available