R672G (p.Arg672Gly) variant of CLCN1 (Chloride channel protein 1)
R672G (p.Arg672Gly) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hypokalemic periodic paralysis, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
R672G (p.Arg672Gly) variant details
- p.Arg672Gly
- rs778587934
- ClinGen CA369649885
- ClinVar RCV002306245
- Pathogenic
- Hypokalemic periodic paralysis, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.18
- CADD 15.50
- PolyPhen-2 0.04
- SIFT 0.16
- ClinVar: Pathogenic (Hypokalemic periodic paralysis, type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Hypokalemic Periodic Paralysis. (PMID 20301512)