N442K (p.Asn442Lys) variant of SLC12A3 (P55017)
N442K (p.Asn442Lys) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial hypokalemia-hypomagnesemia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
N442K (p.Asn442Lys) variant details
- p.Asn442Lys
- rs775232139
- ClinGen CA8069421
- ClinVar RCV002019805
- ClinVar RCV005017044
- Likely pathogenic
- Familial hypokalemia-hypomagnesemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Likely pathogenic (Familial hypokalemia-hypomagnesemia; not provided)
- EBI: Likely pathogenic (in GTLMNS)
- UniProt: Likely pathogenic (in GTLMNS)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Clinical utility gene card for: Gitelman syndrome. (PMID 21343949)