M646I (p.Met646Ile) variant of CLCN1 (Chloride channel protein 1)
M646I (p.Met646Ile) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic 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 0.83 / 1. The record also includes population frequency data and structural context.
M646I (p.Met646Ile) variant details
- p.Met646Ile
- TOPMed rs1344445942
- gnomAD rs1344445942
- Pathogenic
- Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal do
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.84
- CADD 32.00
- PolyPhen-2 0.57
- SIFT 0.00
- ClinVar: Pathogenic (Congenital myotonia, autosomal recessive form; Congenital myoton)
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available