E68K (p.Glu68Lys) variant of SLC12A3 (P55017)
E68K (p.Glu68Lys) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial hypokalemia-hypomagnesemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
E68K (p.Glu68Lys) variant details
- p.Glu68Lys
- rs763210286
- NCI-TCGA Cosmic COSV5263
- cosmic curated COSV52635
- UniProt VAR 039477
- Uncertain significance
- Familial hypokalemia-hypomagnesemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- CADD 25.10
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Uncertain significance (Familial hypokalemia-hypomagnesemia)
- EBI: Pathogenic (in GTLMNS)
- UniProt: Pathogenic (in GTLMNS)
- Most common in the Non-Finnish European population (allele frequency 8.8e-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)