Q74S (p.Gln74Ser) variant of FLNB (Filamin-B)
Q74S (p.Gln74Ser) in FLNB (Filamin-B) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q74S (p.Gln74Ser) variant details
- p.Gln74Ser
- gnomAD 3-58008781-CGCCAG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.66
- CADD 33.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.125
- Literature evidence available