E28E (p.Glu28Glu) variant of FLNB (Filamin-B)
E28E (p.Glu28Glu) in FLNB (Filamin-B) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E28E (p.Glu28Glu) variant details
- p.Glu28Glu
- rs1197563298
- gnomAD 3-58008648-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.422
- CADD 14.60
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.407
- Literature evidence available