E5* (p.Glu5Ter) variant of FLNB (Filamin-B)
E5* (p.Glu5Ter) in FLNB (Filamin-B) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E5* (p.Glu5Ter) variant details
- p.Glu5Ter
- gnomAD 3-58008577-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.872
- CADD 41.00
- Population evidence available
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.259
- Literature evidence available