R54H (p.Arg54His) variant of SLC12A3 (P55017)
R54H (p.Arg54His) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial hypokalemia-hypomagnesemia; not provided. 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.
R54H (p.Arg54His) variant details
- p.Arg54His
- rs373163077
- ClinGen CA8068927
- cosmic curated COSV52632
- ClinVar RCV001121941
- Uncertain significance
- Familial hypokalemia-hypomagnesemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Familial hypokalemia-hypomagnesemia; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00053)
- Structural context available
- Cited in: Clinical utility gene card for: Gitelman syndrome. (PMID 21343949)