R20L (p.Arg20Leu) variant of KRT12 (Keratin, type I cytoskeletal 12)
R20L (p.Arg20Leu) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R20L (p.Arg20Leu) variant details
- p.Arg20Leu
- ExAC rs766699655
- TOPMed rs766699655
- gnomAD rs766699655
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.21
- CADD 15.30
- PolyPhen-2 0.07
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available