E38E (p.Glu38Glu) variant of FGB (Fibrinogen beta chain)
E38E (p.Glu38Glu) in FGB (Fibrinogen beta chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
E38E (p.Glu38Glu) variant details
- p.Glu38Glu
- rs1339535578
- gnomAD 4-154563132-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.75
- CADD 24.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available