R642G (p.Arg642Gly) variant of SLC12A3 (P55017)
R642G (p.Arg642Gly) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R642G (p.Arg642Gly) variant details
- p.Arg642Gly
- rs200697179
- ClinGen CA8069650
- ClinVar RCV000449562
- ClinVar RCV001239291
- Pathogenic/Likely pathogenic
- Familial hypokalemia-hypomagnesemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Familial hypokalemia-hypomagnesemia; not provided)
- EBI: Pathogenic (in GTLMNS)
- UniProt: Pathogenic (in GTLMNS)
- Most common in the Amish population (allele frequency 0.015)
- Structural context available
- Cited in: Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life. (PMID 11168953)
- Cited in: Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients… (PMID 12112667)