E37K (p.Glu37Lys) variant of FGB (Fibrinogen beta chain)
E37K (p.Glu37Lys) in FGB (Fibrinogen beta chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
E37K (p.Glu37Lys) variant details
- p.Glu37Lys
- rs769395119
- ExAC rs769395119
- gnomAD rs769395119
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0721
- REVEL 0.06
- CADD 4.05
- PolyPhen-2 0.01
- SIFT 0.22
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available