Q43P (p.Gln43Pro) variant of CLCN1 (Chloride channel protein 1)
Q43P (p.Gln43Pro) 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 Inborn genetic diseases; Congenital myotonia, autosomal dominant form; Congenita. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
Q43P (p.Gln43Pro) variant details
- p.Gln43Pro
- rs868831424
- ClinGen CA168249802
- ClinVar RCV001039045
- ClinVar RCV002551437
- Uncertain significance
- Inborn genetic diseases; Congenital myotonia, autosomal dominant form; Congenita
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.44
- CADD 23.20
- PolyPhen-2 0.19
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases; Congenital myotonia, autosomal dominant)
- EBI: Variant of uncertain significance (in MCAR)
- UniProt: Uncertain significance (in MCAR)
- Most common in the African/African-American population (allele frequency 9e-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)