D486N (p.Asp486Asn) variant of SLC12A3 (P55017)
D486N (p.Asp486Asn) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial hypokalemia-hypomagnesemia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
D486N (p.Asp486Asn) variant details
- p.Asp486Asn
- rs753523115
- ClinGen CA8069494
- ClinVar RCV000795994
- ClinVar RCV001276374
- Pathogenic/Likely pathogenic
- Familial hypokalemia-hypomagnesemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- CADD 28.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Familial hypokalemia-hypomagnesemia; not provided)
- EBI: Pathogenic (in GTLMNS)
- UniProt: Pathogenic (in GTLMNS)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Three Novel Homozygous Mutations of the SLC12A3 Gene in a Gitelman Syndrome Patient. (PMID 34079339)
- Cited in: Novel mutations of the SLC12A3 gene in patients with Gitelman syndrome. (PMID 34657521)