D7E (p.Asp7Glu) variant of FLNB (Filamin-B)
D7E (p.Asp7Glu) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D7E (p.Asp7Glu) variant details
- p.Asp7Glu
- gnomAD 3-58008585-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.67
- CADD 22.60
- PolyPhen-2 0.73
- SIFT 0.04
- Most common in the Middle Eastern population (allele frequency 0.00021)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.204
- Literature evidence available