I527T (p.Ile527Thr) variant of CLCN1 (Chloride channel protein 1)
I527T (p.Ile527Thr) 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 Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal do. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
I527T (p.Ile527Thr) variant details
- p.Ile527Thr
- rs1319653705
- ClinGen CA369645980
- ClinVar RCV001976009
- ClinVar RCV004690205
- Conflicting interpretations
- Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal do
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.96
- CADD 30.00
- PolyPhen-2 0.93
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Congenital myotonia, autosomal recessive form; Congenital myoton)
- EBI: Pathogenic (in MCAR)
- UniProt: Pathogenic (in MCAR)
- Population evidence available
- Structural context available
- Cited in: Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita. (PMID 22641783)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)