T304P (p.Thr304Pro) variant of SLC12A3 (P55017)
T304P (p.Thr304Pro) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
T304P (p.Thr304Pro) variant details
- p.Thr304Pro
- rs753840283
- ClinGen CA8069259
- ClinVar RCV001941711
- ClinVar RCV005006314
- Pathogenic
- not provided; Familial hypokalemia-hypomagnesemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- CADD 27.40
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Familial hypokalemia-hypomagnesemia)
- EBI: Pathogenic (in GTLMNS)
- UniProt: Pathogenic (in GTLMNS)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Genetic variants of thiazide-sensitive NaCl-cotransporter in Gitelman's syndrome and primary hypertension. (PMID 10988270)
- Cited in: Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome. (PMID 22009145)