R4L (p.Arg4Leu) variant of KRT13 (Keratin, type I cytoskeletal 13)
R4L (p.Arg4Leu) in KRT13 (Keratin, type I cytoskeletal 13) 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 0.36 / 1. The record also includes population frequency data and structural context.
R4L (p.Arg4Leu) variant details
- p.Arg4Leu
- ExAC rs753767170
- TOPMed rs753767170
- gnomAD rs753767170
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.28
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available