G95V (p.Gly95Val) variant of KRT2 (P35908)
G95V (p.Gly95Val) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
G95V (p.Gly95Val) variant details
- p.Gly95Val
- TOPMed rs1480771450
- gnomAD rs1480771450
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.38
- CADD 16.70
- PolyPhen-2 0.12
- SIFT 0.09
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available