Y53H (p.Tyr53His) variant of KRT4 (Keratin, type II cytoskeletal 4)
Y53H (p.Tyr53His) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
Y53H (p.Tyr53His) variant details
- p.Tyr53His
- TOPMed rs1294957370
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.22
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available