F57V (p.Phe57Val) variant of KRT12 (Keratin, type I cytoskeletal 12)
F57V (p.Phe57Val) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
F57V (p.Phe57Val) variant details
- p.Phe57Val
- gnomAD rs1282922358
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.38
- CADD 14.70
- PolyPhen-2 0.12
- SIFT 0.12
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available