L52V (p.Leu52Val) variant of KRT17 (Keratin, type I cytoskeletal 17)
L52V (p.Leu52Val) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
L52V (p.Leu52Val) variant details
- p.Leu52Val
- ExAC rs773659419
- TOPMed rs773659419
- gnomAD rs773659419
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.08
- CADD 8.27
- PolyPhen-2 0.01
- SIFT 0.47
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available