E38R (p.Glu38Arg) variant of FGB (Fibrinogen beta chain)
E38R (p.Glu38Arg) in FGB (Fibrinogen beta chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
E38R (p.Glu38Arg) variant details
- p.Glu38Arg
- gnomAD 4-154563128-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.271
- CADD 4.83
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available