Q57E (p.Gln57Glu) variant of F9 (Coagulation factor IX)
Q57E (p.Gln57Glu) in F9 (Coagulation factor IX) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
Q57E (p.Gln57Glu) variant details
- p.Gln57Glu
- TOPMed rs137852223
- gnomAD rs137852223
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.56
- AlphaMissense 0.09
- MetaLR 0.89
- MetaSVM 0.43
- CADD 6.31
- PolyPhen-2 0.03
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available