Y137D (p.Tyr137Asp) variant of CLCN1 (Chloride channel protein 1)
Y137D (p.Tyr137Asp) 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; Congenital myotonia, autosomal do. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
Y137D (p.Tyr137Asp) variant details
- p.Tyr137Asp
- rs748639603
- ClinGen CA4536926
- ClinVar RCV000692856
- ClinVar RCV000991825
- Pathogenic/Likely pathogenic
- Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal do
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.85
- CADD 26.50
- PolyPhen-2 0.78
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Congenital myotonia, autosomal recessive form; Congenital myoton)
- EBI: Pathogenic (in MCAR)
- UniProt: Pathogenic (in MCAR)
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Cited in: Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal… (PMID 26502825)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)