E3D (p.Glu3Asp) variant of BIN1 (O00499)
E3D (p.Glu3Asp) in BIN1 (O00499) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Myopathy, centronuclear, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
E3D (p.Glu3Asp) variant details
- p.Glu3Asp
- rs558639756
- ClinGen CA1857627
- ClinVar RCV000559491
- 1000Genomes rs558639756
- Uncertain significance
- Myopathy, centronuclear, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.06
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (Myopathy, centronuclear, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available
- Cited in: Clinical utility gene card for: Centronuclear and myotubular myopathies. (PMID 22617344)