R29P (p.Arg29Pro) variant of KRT1 (Keratin, type II cytoskeletal 1)
R29P (p.Arg29Pro) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R29P (p.Arg29Pro) variant details
- p.Arg29Pro
- ExAC rs752232489
- TOPMed rs752232489
- gnomAD rs752232489
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.50
- CADD 20.50
- PolyPhen-2 0.16
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available