R123C (p.Arg123Cys) variant of KRT13 (Keratin, type I cytoskeletal 13)
R123C (p.Arg123Cys) in KRT13 (Keratin, type I cytoskeletal 13) 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 0.67 / 1. The record also includes population frequency data and structural context.
R123C (p.Arg123Cys) variant details
- p.Arg123Cys
- cosmic curated COSV55840
- ExAC rs775411186
- TOPMed rs775411186
- gnomAD rs775411186
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.82
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available