V103A (p.Val103Ala) variant of KRT4 (Keratin, type II cytoskeletal 4)
V103A (p.Val103Ala) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
V103A (p.Val103Ala) variant details
- p.Val103Ala
- TOPMed rs1454609245
- gnomAD rs1454609245
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.28
- CADD 7.43
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available