D19E (p.Asp19Glu) variant of CLCN1 (Chloride channel protein 1)
D19E (p.Asp19Glu) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Batten-Turner congenital myopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
D19E (p.Asp19Glu) variant details
- p.Asp19Glu
- rs886062031
- TOPMed rs886062031
- gnomAD rs886062031
- ClinGen CA10623343
- Uncertain significance
- Batten-Turner congenital myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.24
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (Batten-Turner congenital myopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Myotonia Congenita. (PMID 20301529)