R29C (p.Arg29Cys) variant of KRT1 (Keratin, type II cytoskeletal 1)
R29C (p.Arg29Cys) in KRT1 (Keratin, type II cytoskeletal 1) 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
- ExAC rs201494492
- TOPMed rs201494492
- gnomAD rs201494492
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.45
- CADD 22.60
- PolyPhen-2 0.35
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available