C26S (p.Cys26Ser) variant of FLNB (Filamin-B)
C26S (p.Cys26Ser) 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.
C26S (p.Cys26Ser) variant details
- p.Cys26Ser
- gnomAD 3-58008640-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.89
- CADD 29.20
- PolyPhen-2 0.55
- SIFT 0.02
- Population evidence available
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.429
- Literature evidence available