A415P (p.Ala415Pro) variant of CLCN1 (Chloride channel protein 1)
A415P (p.Ala415Pro) 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 not provided; Congenital myotonia, autosomal recessive form; Congenital myotonia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
A415P (p.Ala415Pro) variant details
- p.Ala415Pro
- rs1023099235
- ClinGen CA168214027
- ClinVar RCV001551532
- ClinVar RCV002221631
- Conflicting interpretations
- not provided; Congenital myotonia, autosomal recessive form; Congenital myotonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.96
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (not provided; Congenital myotonia, autosomal recessive form; Con)
- EBI: Likely pathogenic (in MCAR)
- UniProt: Likely pathogenic (in MCAR)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- 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)