R15H (p.Arg15His) variant of KRT6A (Keratin, type II cytoskeletal 6A)
R15H (p.Arg15His) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of KRT6A-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
R15H (p.Arg15His) variant details
- p.Arg15His
- 1000Genomes rs533157590
- ExAC rs533157590
- TOPMed rs533157590
- gnomAD rs533157590
- Likely benign
- KRT6A-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.0616
- REVEL 0.03
- CADD 6.40
- PolyPhen-2 0.00
- SIFT 0.28
- ClinVar: Likely benign (KRT6A-related disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available