C26W (p.Cys26Trp) variant of FLNB (Filamin-B)
C26W (p.Cys26Trp) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C26W (p.Cys26Trp) variant details
- p.Cys26Trp
- gnomAD 3-58008642-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.84
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.429
- Literature evidence available