L843P (p.Leu843Pro) variant of CLCN1 (Chloride channel protein 1)
L843P (p.Leu843Pro) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 0.83 / 1. The record also includes published literature and structural context.
L843P (p.Leu843Pro) variant details
- p.Leu843Pro
- rs1563090141
- ClinGen CA369653163
- ClinVar RCV000762485
- ClinVar RCV001855956
- Likely pathogenic
- Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal rec
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- AlphaMissense 0.99
- MetaLR 0.84
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Likely pathogenic (Congenital myotonia, autosomal dominant form; Congenital myotoni)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)