G47E (p.Gly47Glu) variant of FLNB (Filamin-B)
G47E (p.Gly47Glu) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G47E (p.Gly47Glu) variant details
- p.Gly47Glu
- gnomAD 3-58008704-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- REVEL 0.98
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -1.15
- Literature evidence available