T649M (p.Thr649Met) variant of SLC12A3 (P55017)
T649M (p.Thr649Met) 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; not provided. 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.
T649M (p.Thr649Met) variant details
- p.Thr649Met
- rs145337602
- ClinGen CA8069670
- cosmic curated COSV99343
- ClinVar RCV000779193
- Pathogenic/Likely pathogenic
- Familial hypokalemia-hypomagnesemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- CADD 25.90
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Familial hypokalemia-hypomagnesemia; not provided)
- EBI: Pathogenic (in GTLMNS)
- UniProt: Pathogenic (in GTLMNS)
- Most common in the African/African-American population (allele frequency 0.00024)
- Structural context available
- Cited in: Clinical utility gene card for: Gitelman syndrome. (PMID 21343949)