R334W (p.Arg334Trp) variant of SLC12A3 (P55017)
R334W (p.Arg334Trp) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Renal tubulopathies; SLC12A3-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R334W (p.Arg334Trp) variant details
- p.Arg334Trp
- rs770702194
- ClinGen CA8069295
- NCI-TCGA Cosmic COSV5263
- cosmic curated COSV52633
- Pathogenic/Likely pathogenic
- not provided; Renal tubulopathies; SLC12A3-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- AlphaMissense 0.23
- MetaLR 0.55
- MetaSVM 0.33
- CADD 24.20
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Renal tubulopathies; SLC12A3-related disorder)
- EBI: Pathogenic (in GTLMNS)
- UniProt: Pathogenic (in GTLMNS)
- Most common in the REMAINING population (allele frequency 5e-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)