C421R (p.Cys421Arg) variant of SLC12A3 (P55017)
C421R (p.Cys421Arg) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
C421R (p.Cys421Arg) variant details
- p.Cys421Arg
- rs28936387
- ClinGen CA119766
- ClinVar RCV000009116
- ClinVar RCV001224839
- Pathogenic
- not provided; Familial hypokalemia-hypomagnesemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- AlphaMissense 0.93
- MetaLR 0.45
- MetaSVM 0.07
- CADD 27.90
- 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 Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the… (PMID 8528245)
- Cited in: Clinical utility gene card for: Gitelman syndrome. (PMID 21343949)