N359K (p.Asn359Lys) variant of SLC12A3 (P55017)
N359K (p.Asn359Lys) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Familial hypokalemia-hypomagnesemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
N359K (p.Asn359Lys) variant details
- p.Asn359Lys
- rs181865675
- ClinGen CA281498273
- ClinVar RCV001213207
- ClinVar RCV001833866
- Pathogenic
- not provided; Familial hypokalemia-hypomagnesemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Familial hypokalemia-hypomagnesemia)
- EBI: Pathogenic (in GTLMNS)
- UniProt: Pathogenic (in GTLMNS)
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available
- Cited in: Novel mutations of the SLC12A3 gene in patients with Gitelman syndrome. (PMID 34657521)
- Cited in: Clinical utility gene card for: Gitelman syndrome. (PMID 21343949)