N567K (p.Asn567Lys) variant of CLCN1 (Chloride channel protein 1)
N567K (p.Asn567Lys) 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 dominant form; Congenital myotonia, autosomal rec. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
N567K (p.Asn567Lys) variant details
- p.Asn567Lys
- rs779726850
- ClinGen CA168221674
- ClinVar RCV001037122
- ExAC rs779726850
- Conflicting interpretations
- Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal rec
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- AlphaMissense 1.00
- MetaLR 0.72
- MetaSVM 0.21
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Conflicting classifications of pathogenicity (Congenital myotonia, autosomal dominant form; Congenital myotoni)
- EBI: Likely benign
- UniProt: Likely benign
- 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)