R15H (p.Arg15His) variant of KRT6B (Keratin, type II cytoskeletal 6B)
R15H (p.Arg15His) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
R15H (p.Arg15His) variant details
- p.Arg15His
- ExAC rs779144610
- gnomAD rs779144610
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.044
- REVEL 0.03
- CADD 1.38
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available