T328I (p.Thr328Ile) variant of CLCN1 (Chloride channel protein 1)
T328I (p.Thr328Ile) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
T328I (p.Thr328Ile) variant details
- p.Thr328Ile
- rs780421370
- ClinGen CA4537201
- ClinVar RCV000998934
- ClinVar RCV003338899
- Uncertain significance
- Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal do
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.95
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Congenital myotonia, autosomal recessive form; Congenital myoton)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 2.3e-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)