L623P (p.Leu623Pro) variant of SLC12A3 (P55017)
L623P (p.Leu623Pro) 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 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
L623P (p.Leu623Pro) variant details
- p.Leu623Pro
- rs121909385
- ClinGen CA119780
- ClinVar RCV000009126
- ClinVar RCV001210434
- Pathogenic
- not provided; Familial hypokalemia-hypomagnesemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- CADD 23.00
- PolyPhen-2 0.51
- SIFT 0.35
- ClinVar: Pathogenic (not provided; Familial hypokalemia-hypomagnesemia)
- EBI: Pathogenic (in GTLMNS)
- UniProt: Pathogenic (in GTLMNS)
- Most common in the East Asian population (allele frequency 0.00033)
- Structural context available
- Cited in: Two novel mutations of thiazide-sensitive Na-Cl cotrans porter (TSC) gene in two sporadic Japanese patients with… (PMID 12008755)
- Cited in: Association of a mutation in thiazide-sensitive Na-Cl cotransporter with familial Gitelman's syndrome. (PMID 8954067)