Y69C (p.Tyr69Cys) variant of KRT14 (Keratin, type I cytoskeletal 14)
Y69C (p.Tyr69Cys) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
Y69C (p.Tyr69Cys) variant details
- p.Tyr69Cys
- ESP rs374199640
- ExAC rs374199640
- TOPMed rs374199640
- gnomAD rs374199640
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.50
- CADD 24.20
- PolyPhen-2 0.71
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 0.00034)
- Structural context available