R24C (p.Arg24Cys) variant of FLNB (Filamin-B)
R24C (p.Arg24Cys) 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.
R24C (p.Arg24Cys) variant details
- p.Arg24Cys
- gnomAD 3-58008634-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.90
- CADD 32.00
- PolyPhen-2 0.73
- SIFT 0.00
- Population evidence available
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.511
- Literature evidence available