S27R (p.Ser27Arg) variant of SLC12A3 (P55017)
S27R (p.Ser27Arg) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S27R (p.Ser27Arg) variant details
- p.Ser27Arg
- rs201850644
- ClinGen CA8068907
- ClinVar RCV000328265
- ClinVar RCV000963131
- Conflicting interpretations
- Familial hypokalemia-hypomagnesemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- CADD 11.40
- PolyPhen-2 0.16
- SIFT 0.37
- ClinVar: Conflicting classifications of pathogenicity (Familial hypokalemia-hypomagnesemia; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:HAN population (allele frequency 0.015)
- Structural context available
- Cited in: Clinical utility gene card for: Gitelman syndrome. (PMID 21343949)