Q54E (p.Gln54Glu) variant of BIN1 (O00499)
Q54E (p.Gln54Glu) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
Q54E (p.Gln54Glu) variant details
- p.Gln54Glu
- rs765035434
- ClinGen CA1857583
- ClinVar RCV003509133
- ExAC rs765035434
- Uncertain significance
- Myopathy, centronuclear, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.47
- CADD 26.60
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Myopathy, centronuclear, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: Clinical utility gene card for: Centronuclear and myotubular myopathies. (PMID 22617344)