R97G (p.Arg97Gly) variant of BIN1 (O00499)
R97G (p.Arg97Gly) 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 0.40 / 1. The record also includes population frequency data and structural context.
R97G (p.Arg97Gly) variant details
- p.Arg97Gly
- TOPMed rs1251472613
- gnomAD rs1251472613
- Uncertain significance
- Myopathy, centronuclear, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.30
- CADD 24.60
- PolyPhen-2 0.78
- SIFT 0.02
- ClinVar: Uncertain significance (Myopathy, centronuclear, 2)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available