I556N (p.Ile556Asn) variant of CLCN1 (Chloride channel protein 1)
I556N (p.Ile556Asn) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
I556N (p.Ile556Asn) variant details
- p.Ile556Asn
- rs80356697
- ClinGen CA341541
- ClinVar RCV001224306
- ClinVar RCV001826481
- Pathogenic/Likely pathogenic
- Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal rec
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.91
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Congenital myotonia, autosomal dominant form; Congenital myotoni)
- EBI: Pathogenic (in MCAD and MCAR)
- UniProt: Pathogenic (in MCAD and MCAR)
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available
- Cited in: The muscle chloride channel ClC-1 has a double-barreled appearance that is differentially affected in dominant and… (PMID 10051520)
- Cited in: Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including… (PMID 9566422)