D46R (p.Asp46Arg) variant of FLNB (Filamin-B)
D46R (p.Asp46Arg) in FLNB (Filamin-B) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D46R (p.Asp46Arg) variant details
- p.Asp46Arg
- gnomAD 3-58008698-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.721
- CADD 33.00
- Population evidence available
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.406
- Literature evidence available