G285E (p.Gly285Glu) variant of CLCN1 (Chloride channel protein 1)
G285E (p.Gly285Glu) 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 Skeletal muscle channelopathy; CLCN1-related disorder; Congenital myotonia, auto. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G285E (p.Gly285Glu) variant details
- p.Gly285Glu
- rs150885084
- ClinGen CA4537163
- ClinVar RCV000305463
- ClinVar RCV000560216
- Pathogenic
- Skeletal muscle channelopathy; CLCN1-related disorder; Congenital myotonia, auto
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.93
- CADD 33.00
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic (Skeletal muscle channelopathy; CLCN1-related disorder; Congenita)
- EBI: Pathogenic (in MCAR)
- UniProt: Pathogenic (in MCAR)
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: Decrement of compound muscle action potential is related to mutation type in myotonia congenita. (PMID 12661046)
- Cited in: ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage… (PMID 9736777)