G316A (p.Gly316Ala) variant of SLC12A3 (P55017)
G316A (p.Gly316Ala) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Familial hypokalemia-hypomagnesemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
G316A (p.Gly316Ala) variant details
- p.Gly316Ala
- rs748920885
- ClinGen CA395983440
- ClinVar RCV001941712
- ClinVar RCV002497870
- Pathogenic/Likely pathogenic
- not provided; Familial hypokalemia-hypomagnesemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Familial hypokalemia-hypomagnesemia)
- EBI: Pathogenic (in GTLMNS)
- UniProt: Pathogenic (in GTLMNS)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Clinical utility gene card for: Gitelman syndrome. (PMID 21343949)