V52F (p.Val52Phe) variant of KRT14 (Keratin, type I cytoskeletal 14)
V52F (p.Val52Phe) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
V52F (p.Val52Phe) variant details
- p.Val52Phe
- TOPMed rs1340895845
- gnomAD rs1340895845
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.43
- CADD 18.50
- PolyPhen-2 0.92
- SIFT 0.78
- Most common in the Latino/Admixed American population (allele frequency 2.4e-05)
- Structural context available