E38D (p.Glu38Asp) variant of FGB (Fibrinogen beta chain)
E38D (p.Glu38Asp) in FGB (Fibrinogen beta chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of FGB-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
E38D (p.Glu38Asp) variant details
- p.Glu38Asp
- rs1339535578
- ClinGen CA358507784
- ClinVar RCV003400388
- Uncertain significance
- FGB-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.21
- CADD 28.50
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Uncertain significance (FGB-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available