N55H (p.Asn55His) variant of CLCN1 (Chloride channel protein 1)
N55H (p.Asn55His) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance 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 0.35 / 1. The record also includes population frequency data and structural context.
N55H (p.Asn55His) variant details
- p.Asn55His
- ExAC rs766032710
- TOPMed rs766032710
- gnomAD rs766032710
- Uncertain significance
- Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal rec
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.28
- CADD 19.90
- PolyPhen-2 0.26
- SIFT 0.07
- ClinVar: Uncertain significance (Congenital myotonia, autosomal dominant form; Congenital myotoni)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available