V112A (p.Val112Ala) variant of KRT4 (Keratin, type II cytoskeletal 4)
V112A (p.Val112Ala) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
V112A (p.Val112Ala) variant details
- p.Val112Ala
- TOPMed rs1939953334
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.83
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available