R59C (p.Arg59Cys) variant of KRT10 (Keratin, type I cytoskeletal 10)
R59C (p.Arg59Cys) in KRT10 (Keratin, type I cytoskeletal 10) is a missense change. Clinical records from ClinVar, EBI, 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 0.30 / 1. The record also includes population frequency data.
R59C (p.Arg59Cys) variant details
- p.Arg59Cys
- TOPMed rs1426584949
- gnomAD rs1426584949
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.20
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)