R209Q (p.Arg209Gln) variant of SLC12A3 (P55017)
R209Q (p.Arg209Gln) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; not provided; Renal tubulopathies. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R209Q (p.Arg209Gln) variant details
- p.Arg209Gln
- rs758035631
- ClinGen CA8069131
- ClinVar RCV000993007
- ClinVar RCV001807374
- Pathogenic
- Inborn genetic diseases; not provided; Renal tubulopathies
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Inborn genetic diseases; not provided; Renal tubulopathies)
- EBI: Pathogenic (in GTLMNS)
- UniProt: Pathogenic (in GTLMNS)
- Most common in the Non-Finnish European population (allele frequency 7.3e-05)
- Structural context available
- Cited in: Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life. (PMID 11168953)
- Cited in: Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome. (PMID 22009145)