R59H (p.Arg59His) variant of KRT6A (Keratin, type II cytoskeletal 6A)
R59H (p.Arg59His) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
R59H (p.Arg59His) variant details
- p.Arg59His
- ExAC rs748703748
- TOPMed rs748703748
- gnomAD rs748703748
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.12
- CADD 22.90
- PolyPhen-2 0.12
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available