D46D (p.Asp46Asp) variant of FLNB (Filamin-B)
D46D (p.Asp46Asp) in FLNB (Filamin-B) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D46D (p.Asp46Asp) variant details
- p.Asp46Asp
- gnomAD 3-58008702-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.334
- CADD 13.20
- 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 -0.406
- Literature evidence available