E5G (p.Glu5Gly) variant of FLNB (Filamin-B)
E5G (p.Glu5Gly) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E5G (p.Glu5Gly) variant details
- p.Glu5Gly
- Ensembl rs1576576258
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.83
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.259