R24G (p.Arg24Gly) variant of FLNB (Filamin-B)
R24G (p.Arg24Gly) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R24G (p.Arg24Gly) variant details
- p.Arg24Gly
- gnomAD 3-58008634-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.92
- CADD 29.70
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.511
- Literature evidence available