T14S (p.Thr14Ser) variant of SLC12A3 (P55017)
T14S (p.Thr14Ser) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial hypokalemia-hypomagnesemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
T14S (p.Thr14Ser) variant details
- p.Thr14Ser
- rs1964322979
- ClinGen CA395976105
- ClinVar RCV001119952
- ClinVar RCV003736985
- Uncertain significance
- Familial hypokalemia-hypomagnesemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.0644
- CADD 0.23
- PolyPhen-2 0.00
- SIFT 0.39
- ClinVar: Uncertain significance (Familial hypokalemia-hypomagnesemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available
- Cited in: Clinical utility gene card for: Gitelman syndrome. (PMID 21343949)