A566T (p.Ala566Thr) variant of CLCN1 (Chloride channel protein 1)
A566T (p.Ala566Thr) 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 recessive form; not provided; Skeletal muscle cha. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
A566T (p.Ala566Thr) variant details
- p.Ala566Thr
- gnomAD rs1277611744
- Pathogenic/Likely pathogenic
- Congenital myotonia, autosomal recessive form; not provided; Skeletal muscle cha
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.82
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Congenital myotonia, autosomal recessive form; not provided; Ske)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available