A523T (p.Ala523Thr) variant of SLC12A3 (P55017)
A523T (p.Ala523Thr) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
A523T (p.Ala523Thr) variant details
- p.Ala523Thr
- rs781137708
- ClinGen CA8069519
- ClinVar RCV001378475
- ClinVar RCV002504631
- Pathogenic/Likely pathogenic
- not provided; Familial hypokalemia-hypomagnesemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- CADD 33.00
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Familial hypokalemia-hypomagnesemia)
- EBI: Pathogenic (in GTLMNS)
- UniProt: Pathogenic (in GTLMNS)
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- Cited in: Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome. (PMID 22009145)
- Cited in: Clinical utility gene card for: Gitelman syndrome. (PMID 21343949)