R26L (p.Arg26Leu) variant of KRT17 (Keratin, type I cytoskeletal 17)
R26L (p.Arg26Leu) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R26L (p.Arg26Leu) variant details
- p.Arg26Leu
- ExAC rs745486930
- TOPMed rs745486930
- gnomAD rs745486930
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.24
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available