G114A (p.Gly114Ala) variant of KRT2 (P35908)
G114A (p.Gly114Ala) 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 0.52 / 1. The record also includes population frequency data and structural context.
G114A (p.Gly114Ala) variant details
- p.Gly114Ala
- ExAC rs766757284
- TOPMed rs766757284
- gnomAD rs766757284
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.45
- CADD 16.10
- PolyPhen-2 0.63
- SIFT 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available