R54S (p.Arg54Ser) variant of SLC12A3 (P55017)
R54S (p.Arg54Ser) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R54S (p.Arg54Ser) variant details
- p.Arg54Ser
- gnomAD 16-56865395-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- MetaLR 0.84
- MetaSVM 0.72
- CADD 22.80
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available