G650D (p.Gly650Asp) variant of CLCN1 (Chloride channel protein 1)
G650D (p.Gly650Asp) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Skeletal muscle channelopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G650D (p.Gly650Asp) variant details
- p.Gly650Asp
- rs1803208919
- ClinGen CA369649411
- ClinVar RCV003388248
- Likely pathogenic
- Skeletal muscle channelopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- REVEL 0.96
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Skeletal muscle channelopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Myotonia Congenita. (PMID 20301529)