L52F (p.Leu52Phe) variant of KRT17 (Keratin, type I cytoskeletal 17)
L52F (p.Leu52Phe) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
L52F (p.Leu52Phe) variant details
- p.Leu52Phe
- ExAC rs773659419
- TOPMed rs773659419
- gnomAD rs773659419
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.14
- CADD 9.04
- PolyPhen-2 0.00
- SIFT 0.61
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available