P643L (p.Pro643Leu) variant of SLC12A3 (P55017)
P643L (p.Pro643Leu) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Inborn genetic diseases; not provided; Familial hypokalemia-hypomagnesemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
P643L (p.Pro643Leu) variant details
- p.Pro643Leu
- rs140012781
- ClinGen CA8069667
- ClinVar RCV000477915
- ClinVar RCV000681948
- Likely pathogenic
- Inborn genetic diseases; not provided; Familial hypokalemia-hypomagnesemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Familial hypokalemia-hypomagnesemia)
- EBI: Pathogenic (in GTLMNS)
- UniProt: Pathogenic (in GTLMNS)
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available
- Cited in: Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life. (PMID 11168953)
- Cited in: Severe hypomagnesaemia-induced hypocalcaemia in a patient with Gitelman's syndrome. (PMID 11940055)