V48I (p.Val48Ile) variant of BIN1 (O00499)
V48I (p.Val48Ile) 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.
V48I (p.Val48Ile) variant details
- p.Val48Ile
- rs1394166082
- ClinGen CA348370583
- cosmic curated COSV52119
- ClinVar RCV002647324
- Uncertain significance
- Myopathy, centronuclear, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.25
- CADD 25.70
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (Myopathy, centronuclear, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Clinical utility gene card for: Centronuclear and myotubular myopathies. (PMID 22617344)