R59S (p.Arg59Ser) variant of KRT6B (Keratin, type II cytoskeletal 6B)
R59S (p.Arg59Ser) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R59S (p.Arg59Ser) variant details
- p.Arg59Ser
- ESP rs370887221
- ExAC rs370887221
- TOPMed rs370887221
- gnomAD rs370887221
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.18
- CADD 22.80
- PolyPhen-2 0.45
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available