G80V (p.Gly80Val) variant of KRT2 (P35908)
G80V (p.Gly80Val) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
G80V (p.Gly80Val) variant details
- p.Gly80Val
- ESP rs148049179
- TOPMed rs148049179
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.48
- CADD 19.20
- PolyPhen-2 0.45
- SIFT 0.05
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available