E28* (p.Glu28Ter) variant of FLNB (Filamin-B)
E28* (p.Glu28Ter) 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.
E28* (p.Glu28Ter) variant details
- p.Glu28Ter
- gnomAD 3-58008646-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.872
- CADD 40.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.407
- Literature evidence available