E148Q (p.Glu148Gln) variant of F12 (Coagulation factor XII)
E148Q (p.Glu148Gln) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
E148Q (p.Glu148Gln) variant details
- p.Glu148Gln
- ExAC rs761290517
- TOPMed rs761290517
- gnomAD rs761290517
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.24
- CADD 23.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available