C4Y (p.Cys4Tyr) variant of KRT14 (Keratin, type I cytoskeletal 14)
C4Y (p.Cys4Tyr) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
C4Y (p.Cys4Tyr) variant details
- p.Cys4Tyr
- Ensembl rs1449926174
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.18
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available