R60Q (p.Arg60Gln) variant of BIN1 (O00499)
R60Q (p.Arg60Gln) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R60Q (p.Arg60Gln) variant details
- p.Arg60Gln
- rs1558835946
- ClinGen CA348369886
- NCI-TCGA Cosmic COSV5212
- cosmic curated COSV52121
- Uncertain significance
- Myopathy, centronuclear, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.14
- CADD 24.50
- PolyPhen-2 0.09
- SIFT 0.04
- ClinVar: Uncertain significance (Myopathy, centronuclear, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Clinical utility gene card for: Centronuclear and myotubular myopathies. (PMID 22617344)