G119A (p.Gly119Ala) variant of KRT2 (P35908)
G119A (p.Gly119Ala) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G119A (p.Gly119Ala) variant details
- p.Gly119Ala
- Ensembl rs1592257686
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.43
- CADD 21.90
- PolyPhen-2 0.66
- SIFT 0.19
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available