W433S (p.Trp433Ser) variant of CLCN1 (Chloride channel protein 1)
W433S (p.Trp433Ser) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal do. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
W433S (p.Trp433Ser) variant details
- p.Trp433Ser
- rs1486868849
- ClinGen CA369643968
- ClinVar RCV001942970
- ClinVar RCV006280789
- Conflicting interpretations
- Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal do
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- AlphaMissense 0.99
- MetaLR 0.87
- MetaSVM 0.84
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Conflicting classifications of pathogenicity (Congenital myotonia, autosomal recessive form; Congenital myoton)
- 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)