R30H (p.Arg30His) variant of KRT6B (Keratin, type II cytoskeletal 6B)
R30H (p.Arg30His) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
R30H (p.Arg30His) variant details
- p.Arg30His
- rs374275504
- NCI-TCGA Cosmic COSV9936
- ESP rs374275504
- ExAC rs374275504
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.07
- CADD 14.00
- PolyPhen-2 0.00
- SIFT 0.17
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available