G499E (p.Gly499Glu) variant of CLCN1 (Chloride channel protein 1)
G499E (p.Gly499Glu) 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 dominant form; Congenital myotonia, autosomal rec. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
G499E (p.Gly499Glu) variant details
- p.Gly499Glu
- rs1803022284
- ClinGen CA369645609
- NCI-TCGA Cosmic COSV1005
- ClinVar RCV001203791
- Uncertain significance
- Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal rec
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- AlphaMissense 0.96
- MetaLR 0.92
- MetaSVM 1.02
- PolyPhen-2 0.91
- SIFT 0.00
- EVE 0.75
- ClinVar: Uncertain significance (Congenital myotonia, autosomal dominant form; Congenital myotoni)
- EBI: Variant of uncertain significance (in MCAR)
- UniProt: Uncertain significance (in MCAR)
- 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)