R54L (p.Arg54Leu) variant of SLC12A3 (P55017)
R54L (p.Arg54Leu) in SLC12A3 (P55017) 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 0.67 / 1. The record also includes population frequency data and structural context.
R54L (p.Arg54Leu) variant details
- p.Arg54Leu
- ESP rs373163077
- ExAC rs373163077
- TOPMed rs373163077
- gnomAD rs373163077
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available