D62N (p.Asp62Asn) variant of SLC12A3 (P55017)
D62N (p.Asp62Asn) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; 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.
D62N (p.Asp62Asn) variant details
- p.Asp62Asn
- rs757490496
- ClinGen CA395977137
- ClinVar RCV001046841
- ClinVar RCV001807378
- Conflicting interpretations
- not provided; Familial hypokalemia-hypomagnesemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Familial hypokalemia-hypomagnesemia)
- EBI: Pathogenic (in GTLMNS)
- UniProt: Pathogenic (in GTLMNS)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome. (PMID 8900229)
- Cited in: Clinical utility gene card for: Gitelman syndrome. (PMID 21343949)