S35R (p.Ser35Arg) variant of KRT6B (Keratin, type II cytoskeletal 6B)
S35R (p.Ser35Arg) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
S35R (p.Ser35Arg) variant details
- p.Ser35Arg
- ExAC rs769979285
- gnomAD rs769979285
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.13
- CADD 8.25
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available