L52F (p.Leu52Phe) variant of KRT4 (Keratin, type II cytoskeletal 4)
L52F (p.Leu52Phe) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
L52F (p.Leu52Phe) variant details
- p.Leu52Phe
- ESP rs370960727
- ExAC rs370960727
- gnomAD rs370960727
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.55
- CADD 25.10
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available