R13C (p.Arg13Cys) variant of KRT12 (Keratin, type I cytoskeletal 12)
R13C (p.Arg13Cys) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
R13C (p.Arg13Cys) variant details
- p.Arg13Cys
- ExAC rs745817473
- TOPMed rs745817473
- gnomAD rs745817473
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.16
- CADD 11.00
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available