Q74* (p.Gln74Ter) variant of FLNB (Filamin-B)
Q74* (p.Gln74Ter) in FLNB (Filamin-B) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q74* (p.Gln74Ter) variant details
- p.Gln74Ter
- gnomAD rs1186772418
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.879
- CADD 40.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.125