E5E (p.Glu5Glu) variant of FLNB (Filamin-B)
E5E (p.Glu5Glu) in FLNB (Filamin-B) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E5E (p.Glu5Glu) variant details
- p.Glu5Glu
- rs757329160
- gnomAD 3-58008579-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.396
- CADD 13.80
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.259
- Literature evidence available