R955Q (p.Arg955Gln) variant of SLC12A3 (P55017)
R955Q (p.Arg955Gln) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Renal tubulopathies; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R955Q (p.Arg955Gln) variant details
- p.Arg955Gln
- rs202114767
- ClinGen CA8070132
- ClinVar RCV000477802
- ClinVar RCV000681947
- Pathogenic/Likely pathogenic
- Renal tubulopathies; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- AlphaMissense 0.27
- MetaLR 0.37
- MetaSVM -0.10
- CADD 29.30
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Renal tubulopathies; Inborn genetic diseases; not provided)
- EBI: Pathogenic (in GTLMNS)
- UniProt: Pathogenic (in GTLMNS)
- Most common in the Ashkenazi Jewish population (allele frequency 0.0017)
- Structural context available
- Cited in: Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome. (PMID 22009145)
- Cited in: Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the… (PMID 8528245)