D49H (p.Asp49His) variant of FGA (Fibrinogen alpha chain)
D49H (p.Asp49His) in FGA (Fibrinogen alpha chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data.
D49H (p.Asp49His) variant details
- p.Asp49His
- ExAC rs755864144
- TOPMed rs755864144
- gnomAD rs755864144
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.47
- CADD 27.30
- PolyPhen-2 0.70
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)