R154W (p.Arg154Trp) variant of BIN1 (O00499)
R154W (p.Arg154Trp) 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.
R154W (p.Arg154Trp) variant details
- p.Arg154Trp
- rs761914168
- ClinGen CA1857472
- ClinVar RCV000811248
- ExAC rs761914168
- Uncertain significance
- Myopathy, centronuclear, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.57
- CADD 29.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Myopathy, centronuclear, 2)
- EBI: Variant of uncertain significance (in CNM2)
- UniProt: Uncertain significance (in CNM2)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Clinical utility gene card for: Centronuclear and myotubular myopathies. (PMID 22617344)