I191T (p.Ile191Thr) variant of CLCN1 (Chloride channel protein 1)
I191T (p.Ile191Thr) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
I191T (p.Ile191Thr) variant details
- p.Ile191Thr
- rs756669568
- ClinGen CA4537006
- ClinVar RCV001895310
- ExAC rs756669568
- Uncertain significance
- Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal do
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.98
- CADD 26.40
- PolyPhen-2 0.81
- SIFT 0.00
- ClinVar: Uncertain significance (Congenital myotonia, autosomal recessive form; Congenital myoton)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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)