G741R (p.Gly741Arg) variant of SLC12A3 (P55017)
G741R (p.Gly741Arg) 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; Inherited renal tubular disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
G741R (p.Gly741Arg) variant details
- p.Gly741Arg
- rs138977195
- ClinGen CA204579
- ClinVar RCV000190624
- ClinVar RCV000255367
- Pathogenic/Likely pathogenic
- Renal tubulopathies; Inherited renal tubular disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Renal tubulopathies; Inherited renal tubular disease; not provid)
- EBI: Pathogenic (in GTLMNS)
- UniProt: Pathogenic (in GTLMNS)
- Most common in the 1KG:CLM population (allele frequency 0.011)
- Structural context available
- Cited in: Genetic variants of thiazide-sensitive NaCl-cotransporter in Gitelman's syndrome and primary hypertension. (PMID 10988270)
- Cited in: Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome. (PMID 22009145)