Q19* (p.Gln19Ter) variant of FLNB (Filamin-B)
Q19* (p.Gln19Ter) in FLNB (Filamin-B) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q19* (p.Gln19Ter) variant details
- p.Gln19Ter
- gnomAD 3-58008619-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.864
- CADD 38.00
- Population evidence available
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.584
- Literature evidence available