T392I (p.Thr392Ile) variant of SLC12A3 (P55017)
T392I (p.Thr392Ile) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial hypokalemia-hypomagnesemia; Renal tubulopathies; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
T392I (p.Thr392Ile) variant details
- p.Thr392Ile
- rs748575829
- ClinGen CA8069364
- ClinVar RCV001381399
- ClinVar RCV002243171
- Pathogenic/Likely pathogenic
- Familial hypokalemia-hypomagnesemia; Renal tubulopathies; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.28
- ClinVar: Pathogenic/Likely pathogenic (Familial hypokalemia-hypomagnesemia; Renal tubulopathies; not pr)
- EBI: Pathogenic (in GTLMNS)
- UniProt: Pathogenic (in GTLMNS)
- Most common in the East Asian population (allele frequency 5e-05)
- 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)