R41L (p.Arg41Leu) variant of KRT14 (Keratin, type I cytoskeletal 14)
R41L (p.Arg41Leu) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
R41L (p.Arg41Leu) variant details
- p.Arg41Leu
- 1000Genomes rs566001198
- ExAC rs566001198
- TOPMed rs566001198
- gnomAD rs566001198
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.42
- CADD 18.50
- PolyPhen-2 0.04
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available