D117G (p.Asp117Gly) variant of CLCN1 (Chloride channel protein 1)
D117G (p.Asp117Gly) 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 Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal rec. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
D117G (p.Asp117Gly) variant details
- p.Asp117Gly
- rs1224227320
- ClinGen CA369682126
- ClinVar RCV003781072
- TOPMed rs1224227320
- Likely pathogenic
- Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal rec
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.89
- CADD 28.10
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Likely pathogenic (Congenital myotonia, autosomal dominant form; Congenital myotoni)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-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)