R59L (p.Arg59Leu) variant of KRT6B (Keratin, type II cytoskeletal 6B)
R59L (p.Arg59Leu) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R59L (p.Arg59Leu) variant details
- p.Arg59Leu
- ExAC rs771831330
- TOPMed rs771831330
- gnomAD rs771831330
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.18
- CADD 21.80
- PolyPhen-2 0.03
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available