A298T (p.Ala298Thr) variant of CLCN1 (Chloride channel protein 1)
A298T (p.Ala298Thr) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
A298T (p.Ala298Thr) variant details
- p.Ala298Thr
- rs764100025
- ClinGen CA4537170
- ClinVar RCV000638241
- ClinVar RCV000761298
- Pathogenic/Likely pathogenic
- Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal do
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.90
- CADD 29.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Congenital myotonia, autosomal recessive form; Congenital myoton)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00018)
- 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)