G34R (p.Gly34Arg) variant of CLCN1 (Chloride channel protein 1)
G34R (p.Gly34Arg) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
G34R (p.Gly34Arg) variant details
- p.Gly34Arg
- rs200889399
- ClinGen CA4536821
- ClinVar RCV000638254
- ClinVar RCV004777788
- Uncertain significance
- Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal do
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.53
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Congenital myotonia, autosomal recessive form; Congenital myoton)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- 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)