R59H (p.Arg59His) variant of KRT10 (Keratin, type I cytoskeletal 10)
R59H (p.Arg59His) in KRT10 (Keratin, type I cytoskeletal 10) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
R59H (p.Arg59His) variant details
- p.Arg59His
- ESP rs374581207
- ExAC rs374581207
- TOPMed rs374581207
- gnomAD rs374581207
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.30
- CADD 21.30
- PolyPhen-2 0.47
- SIFT 0.17
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)