G270D (p.Gly270Asp) variant of CLCN1 (Chloride channel protein 1)
G270D (p.Gly270Asp) 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 not specified; Congenital myotonia, autosomal recessive form; Congenital myotoni. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
G270D (p.Gly270Asp) variant details
- p.Gly270Asp
- rs1490537212
- ClinGen CA369687535
- ClinVar RCV000711239
- ClinVar RCV003323696
- Uncertain significance
- not specified; Congenital myotonia, autosomal recessive form; Congenital myotoni
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.92
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Congenital myotonia, autosomal recessive form; Co)
- EBI: Variant of uncertain significance (in MCAR)
- UniProt: Uncertain significance (in MCAR)
- Most common in the African/African-American population (allele frequency 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)