D93E (p.Asp93Glu) variant of BIN1 (O00499)
D93E (p.Asp93Glu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
D93E (p.Asp93Glu) variant details
- p.Asp93Glu
- rs770994335
- ClinGen CA348369413
- ClinVar RCV001238014
- ClinVar RCV001760256
- Uncertain significance
- Myopathy, centronuclear, 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.09
- CADD 12.00
- PolyPhen-2 0.01
- SIFT 0.34
- ClinVar: Uncertain significance (Myopathy, centronuclear, 2; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Clinical utility gene card for: Centronuclear and myotubular myopathies. (PMID 22617344)