T60M (p.Thr60Met) variant of SLC12A3 (P55017)
T60M (p.Thr60Met) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
T60M (p.Thr60Met) variant details
- p.Thr60Met
- rs371443644
- ClinGen CA150734
- ClinVar RCV000087747
- ClinVar RCV000489628
- Pathogenic
- not provided; Familial hypokalemia-hypomagnesemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Familial hypokalemia-hypomagnesemia)
- EBI: Pathogenic (in GTLMNS)
- UniProt: Pathogenic (in GTLMNS)
- Most common in the East Asian population (allele frequency 0.00077)
- Structural context available
- Cited in: Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome. (PMID 15069170)
- Cited in: Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome. (PMID 22009145)