E5Q (p.Glu5Gln) variant of FLNB (Filamin-B)
E5Q (p.Glu5Gln) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E5Q (p.Glu5Gln) variant details
- p.Glu5Gln
- gnomAD rs1420322834
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.69
- CADD 30.00
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.259