L65I (p.Leu65Ile) variant of BIN1 (O00499)
L65I (p.Leu65Ile) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L65I (p.Leu65Ile) variant details
- p.Leu65Ile
- rs2105078067
- ClinGen CA348369793
- ClinVar RCV001889098
- Ensembl rs2105078067
- Uncertain significance
- Myopathy, centronuclear, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.17
- CADD 23.80
- PolyPhen-2 0.09
- SIFT 0.02
- ClinVar: Uncertain significance (Myopathy, centronuclear, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Clinical utility gene card for: Centronuclear and myotubular myopathies. (PMID 22617344)