R66Q (p.Arg66Gln) variant of BIN1 (O00499)
R66Q (p.Arg66Gln) 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 0.43 / 1. The record also includes population frequency data and structural context.
R66Q (p.Arg66Gln) variant details
- p.Arg66Gln
- TOPMed rs1685787289
- Uncertain significance
- Myopathy, centronuclear, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.18
- CADD 26.30
- PolyPhen-2 0.72
- SIFT 0.00
- ClinVar: Uncertain significance (Myopathy, centronuclear, 2)
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available