A493E (p.Ala493Glu) variant of CLCN1 (Chloride channel protein 1)
A493E (p.Ala493Glu) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
A493E (p.Ala493Glu) variant details
- p.Ala493Glu
- rs770900468
- ClinGen CA4537403
- ClinVar RCV000987990
- ClinVar RCV001212828
- Pathogenic/Likely pathogenic
- Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal do
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.97
- CADD 25.70
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Congenital myotonia, autosomal recessive form; Congenital myoton)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 3.3e-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)