R54C (p.Arg54Cys) variant of SLC12A3 (P55017)
R54C (p.Arg54Cys) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial hypokalemia-hypomagnesemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
R54C (p.Arg54Cys) variant details
- p.Arg54Cys
- rs774753302
- ClinGen CA8068926
- NCI-TCGA Cosmic COSV5263
- cosmic curated COSV52633
- Conflicting interpretations
- Familial hypokalemia-hypomagnesemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Familial hypokalemia-hypomagnesemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Clinical utility gene card for: Gitelman syndrome. (PMID 21343949)