S17R (p.Ser17Arg) variant of SLC12A3 (P55017)
S17R (p.Ser17Arg) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Familial hypokalemia-hypomagnesemia; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
S17R (p.Ser17Arg) variant details
- p.Ser17Arg
- rs369795019
- ClinGen CA8068898
- ClinVar RCV003063624
- ClinVar RCV003068937
- Uncertain significance
- not provided; Familial hypokalemia-hypomagnesemia; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0608
- CADD 0.15
- PolyPhen-2 0.67
- SIFT 0.13
- ClinVar: Uncertain significance (not provided; Familial hypokalemia-hypomagnesemia; Inborn geneti)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available
- Cited in: Clinical utility gene card for: Gitelman syndrome. (PMID 21343949)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)