E38K (p.Glu38Lys) variant of FGB (Fibrinogen beta chain)
E38K (p.Glu38Lys) in FGB (Fibrinogen beta chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E38K (p.Glu38Lys) variant details
- p.Glu38Lys
- gnomAD 4-154563130-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.21
- CADD 0.73
- PolyPhen-2 0.04
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available