R59L (p.Arg59Leu) variant of KRT9 (Keratin, type I cytoskeletal 9)
R59L (p.Arg59Leu) in KRT9 (Keratin, type I cytoskeletal 9) 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.
R59L (p.Arg59Leu) variant details
- p.Arg59Leu
- ExAC rs778678852
- TOPMed rs778678852
- gnomAD rs778678852
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.32
- CADD 16.00
- PolyPhen-2 0.04
- SIFT 0.04
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available