A313T (p.Ala313Thr) variant of CLCN1 (Chloride channel protein 1)
A313T (p.Ala313Thr) 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 dominant form; Congenital myotonia, autosomal rec. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
A313T (p.Ala313Thr) variant details
- p.Ala313Thr
- rs80356692
- ClinGen CA341561
- ClinVar RCV000224894
- ClinVar RCV000638231
- Pathogenic/Likely pathogenic
- Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal rec
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.86
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Congenital myotonia, autosomal dominant form; Congenital myotoni)
- EBI: Pathogenic (in MCAD and MCAR)
- UniProt: Pathogenic (in MCAD and MCAR)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including… (PMID 9566422)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)