C47R (p.Cys47Arg) variant of BIN1 (O00499)
C47R (p.Cys47Arg) 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 0.48 / 1. The record also includes population frequency data and structural context.
C47R (p.Cys47Arg) variant details
- p.Cys47Arg
- gnomAD rs1054543683
- Uncertain significance
- Myopathy, centronuclear, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.36
- CADD 24.80
- PolyPhen-2 0.84
- SIFT 0.06
- ClinVar: Uncertain significance (Myopathy, centronuclear, 2)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available