V18M (p.Val18Met) variant of BIN1 (O00499)
V18M (p.Val18Met) in BIN1 (O00499) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Myopathy, centronuclear, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
V18M (p.Val18Met) variant details
- p.Val18Met
- rs566597765
- ClinGen CA1857626
- ClinVar RCV001071070
- ClinVar RCV001760053
- Uncertain significance
- not provided; Myopathy, centronuclear, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.17
- CADD 23.30
- PolyPhen-2 0.07
- SIFT 0.07
- ClinVar: Uncertain significance (not provided; Myopathy, centronuclear, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.011)
- Structural context available
- Cited in: Clinical utility gene card for: Centronuclear and myotubular myopathies. (PMID 22617344)