R60W (p.Arg60Trp) variant of BIN1 (O00499)
R60W (p.Arg60Trp) in BIN1 (O00499) is a missense change. Clinical records from ClinVar 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 0.35 / 1. The record also includes population frequency data and structural context.
R60W (p.Arg60Trp) variant details
- p.Arg60Trp
- cosmic curated COSV10959
- TOPMed rs567993530
- gnomAD rs567993530
- Uncertain significance
- Myopathy, centronuclear, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.31
- CADD 25.20
- PolyPhen-2 0.08
- SIFT 0.04
- ClinVar: Uncertain significance (Myopathy, centronuclear, 2)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0032)
- Structural context available