D46E (p.Asp46Glu) variant of GJB1 (Gap junction beta-1 protein)
D46E (p.Asp46Glu) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Charcot-Marie-Tooth Neuropathy X. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
D46E (p.Asp46Glu) variant details
- p.Asp46Glu
- rs1419095893
- ClinGen CA413501086
- ClinVar RCV001224257
- gnomAD rs1419095893
- Uncertain significance
- Charcot-Marie-Tooth Neuropathy X
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.70
- CADD 15.60
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Charcot-Marie-Tooth Neuropathy X)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)