F45V (p.Phe45Val) variant of KRT3 (Keratin, type II cytoskeletal 3)
F45V (p.Phe45Val) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
F45V (p.Phe45Val) variant details
- p.Phe45Val
- ExAC rs776298144
- TOPMed rs776298144
- gnomAD rs776298144
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.20
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 0.46
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available