L20V (p.Leu20Val) variant of KRT17 (Keratin, type I cytoskeletal 17)
L20V (p.Leu20Val) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
L20V (p.Leu20Val) variant details
- p.Leu20Val
- ExAC rs752754536
- TOPMed rs752754536
- gnomAD rs752754536
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.24
- CADD 10.60
- PolyPhen-2 0.28
- SIFT 0.85
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available