L700P (p.Leu700Pro) variant of SLC12A3 (P55017)
L700P (p.Leu700Pro) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial hypokalemia-hypomagnesemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
L700P (p.Leu700Pro) variant details
- p.Leu700Pro
- rs2543523215
- ClinGen CA395993782
- ClinVar RCV004527202
- Pathogenic
- Familial hypokalemia-hypomagnesemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- CADD 29.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Familial hypokalemia-hypomagnesemia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Clinical utility gene card for: Gitelman syndrome. (PMID 21343949)