G491E (p.Gly491Glu) variant of CLCN1 (Chloride channel protein 1)
G491E (p.Gly491Glu) 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 recessive form; Congenital myotonia, autosomal do. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G491E (p.Gly491Glu) variant details
- p.Gly491Glu
- rs2487083724
- ClinGen CA369645518
- ClinVar RCV003991898
- Likely pathogenic
- Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal do
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- REVEL 0.98
- CADD 33.00
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Likely pathogenic (Congenital myotonia, autosomal recessive form; Congenital myoton)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-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)