G51S (p.Gly51Ser) variant of CLCN1 (Chloride channel protein 1)
G51S (p.Gly51Ser) 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
G51S (p.Gly51Ser) variant details
- p.Gly51Ser
- rs1487169721
- ClinGen CA369677502
- ClinVar RCV003795874
- TOPMed rs1487169721
- Uncertain significance
- Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal rec
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.11
- CADD 7.20
- PolyPhen-2 0.01
- SIFT 0.20
- ClinVar: Uncertain significance (Congenital myotonia, autosomal dominant form; Congenital myotoni)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-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)