V52A (p.Val52Ala) variant of KRT14 (Keratin, type I cytoskeletal 14)
V52A (p.Val52Ala) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
V52A (p.Val52Ala) variant details
- p.Val52Ala
- gnomAD rs1270390371
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.32
- CADD 16.30
- PolyPhen-2 0.34
- SIFT 0.64
- Most common in the Latino/Admixed American population (allele frequency 2.4e-05)
- Structural context available