H69N (p.His69Asn) variant of SLC12A3 (P55017)
H69N (p.His69Asn) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
H69N (p.His69Asn) variant details
- p.His69Asn
- rs780502516
- ClinGen CA8068936
- ClinVar RCV003317730
- UniProt VAR 039478
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- CADD 16.80
- PolyPhen-2 0.09
- SIFT 0.35
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic (in GTLMNS)
- UniProt: Pathogenic (in GTLMNS)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes. (PMID 17654016)
- Cited in: Novel mutations in thiazide-sensitive Na-Cl cotransporter gene of patients with Gitelman's syndrome. (PMID 10616841)