R13H (p.Arg13His) variant of KRT12 (Keratin, type I cytoskeletal 12)
R13H (p.Arg13His) in KRT12 (Keratin, type I cytoskeletal 12) 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 0.13 / 1. The record also includes population frequency data and structural context.
R13H (p.Arg13His) variant details
- p.Arg13His
- rs765618473
- ExAC rs765618473
- TOPMed rs765618473
- gnomAD rs765618473
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.14
- CADD 8.17
- PolyPhen-2 0.00
- SIFT 0.22
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available