T304M (p.Thr304Met) variant of SLC12A3 (P55017)
T304M (p.Thr304Met) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Familial hypokalemia-hypomagnesemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
T304M (p.Thr304Met) variant details
- p.Thr304Met
- rs755069436
- ClinGen CA8069260
- cosmic curated COSV52632
- ClinVar RCV001381398
- Pathogenic
- not provided; Familial hypokalemia-hypomagnesemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- CADD 25.40
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Familial hypokalemia-hypomagnesemia)
- EBI: Pathogenic (in GTLMNS)
- UniProt: Pathogenic (in GTLMNS)
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-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)