T163M (p.Thr163Met) variant of SLC12A3 (P55017)
T163M (p.Thr163Met) 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; Renal tubulopathies; Familial hypokalemia-hypomagnesemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
T163M (p.Thr163Met) variant details
- p.Thr163Met
- rs267607050
- ClinGen CA031919
- ClinVar RCV000009127
- ClinVar RCV001221896
- Pathogenic/Likely pathogenic
- not provided; Renal tubulopathies; Familial hypokalemia-hypomagnesemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (not provided; Renal tubulopathies; Familial hypokalemia-hypomagn)
- EBI: Pathogenic (in GTLMNS)
- UniProt: Pathogenic (in GTLMNS)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients… (PMID 12112667)
- Cited in: Hypokalemic paralysis due to Gitelman syndrome: a family study. (PMID 17000984)