I140L (p.Ile140Leu) variant of BIN1 (O00499)
I140L (p.Ile140Leu) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
I140L (p.Ile140Leu) variant details
- p.Ile140Leu
- rs1407049344
- ClinGen CA348368062
- ClinVar RCV001242127
- TOPMed rs1407049344
- Uncertain significance
- Myopathy, centronuclear, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.35
- CADD 27.70
- PolyPhen-2 0.95
- 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 2.2e-05)
- Structural context available
- Cited in: Clinical utility gene card for: Centronuclear and myotubular myopathies. (PMID 22617344)