W172R (p.Trp172Arg) variant of SLC12A3 (P55017)
W172R (p.Trp172Arg) 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; not provided; Familial hypokalemia-hypomagnesemia. 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.
W172R (p.Trp172Arg) variant details
- p.Trp172Arg
- rs757792232
- ClinGen CA8069086
- ClinVar RCV001702309
- ClinVar RCV002243433
- Pathogenic/Likely pathogenic
- Renal tubulopathies; not provided; Familial hypokalemia-hypomagnesemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.34
- ClinVar: Pathogenic/Likely pathogenic (Renal tubulopathies; not provided; Familial hypokalemia-hypomagn)
- EBI: Pathogenic (in GTLMNS)
- UniProt: Pathogenic (in GTLMNS)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients… (PMID 12112667)
- Cited in: Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome. (PMID 22009145)