R29L (p.Arg29Leu) variant of KRT1 (Keratin, type II cytoskeletal 1)
R29L (p.Arg29Leu) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R29L (p.Arg29Leu) variant details
- p.Arg29Leu
- ExAC rs752232489
- TOPMed rs752232489
- gnomAD rs752232489
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.39
- CADD 19.30
- PolyPhen-2 0.03
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available