A166V (p.Ala166Val) variant of SLC12A3 (P55017)
A166V (p.Ala166Val) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Renal tubulopathies; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
A166V (p.Ala166Val) variant details
- p.Ala166Val
- rs779683214
- ClinVar RCV004590841
- UniProt VAR 075940
- TOPMed rs779683214
- Likely pathogenic
- Renal tubulopathies; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Renal tubulopathies; not provided)
- EBI: Pathogenic (in GTLMNS)
- UniProt: Pathogenic (in GTLMNS)
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome. (PMID 22009145)
- Cited in: Novel mutations in thiazide-sensitive Na-Cl cotransporter gene of patients with Gitelman's syndrome. (PMID 10616841)