G482E (p.Gly482Glu) variant of CLCN1 (Chloride channel protein 1)
G482E (p.Gly482Glu) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Congenital myotonia, autosomal recessive form; Congenital myotonia. 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.
G482E (p.Gly482Glu) variant details
- p.Gly482Glu
- rs1380726444
- ClinGen CA369645384
- NCI-TCGA Cosmic COSV1005
- ClinVar RCV000685629
- Conflicting interpretations
- not provided; Congenital myotonia, autosomal recessive form; Congenital myotonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- REVEL 0.99
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Congenital myotonia, autosomal recessive form; Con)
- EBI: Pathogenic (in MCAR)
- UniProt: Pathogenic (in MCAR)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)