R29C (p.Arg29Cys) variant of KRT5 (Keratin, type II cytoskeletal 5)
R29C (p.Arg29Cys) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R29C (p.Arg29Cys) variant details
- p.Arg29Cys
- TOPMed rs1274640779
- gnomAD rs1274640779
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.38
- CADD 25.90
- PolyPhen-2 0.25
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available