V3L (p.Val3Leu) variant of FLNB (Filamin-B)
V3L (p.Val3Leu) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V3L (p.Val3Leu) variant details
- p.Val3Leu
- gnomAD 3-58008571-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.27
- CADD 24.70
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.176
- Literature evidence available