A9D (p.Ala9Asp) variant of FLNB (Filamin-B)
A9D (p.Ala9Asp) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A9D (p.Ala9Asp) variant details
- p.Ala9Asp
- gnomAD 3-58008590-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.84
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.303
- Literature evidence available