Q47H (p.Gln47His) variant of F11 (Coagulation factor XI)
Q47H (p.Gln47His) in F11 (Coagulation factor XI) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
Q47H (p.Gln47His) variant details
- p.Gln47His
- ExAC rs778981487
- TOPMed rs778981487
- gnomAD rs778981487
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.60
- ESM-1b 1.00
- AlphaMissense 0.65
- MetaLR 0.77
- MetaSVM 0.41
- CADD 5.52
- Population evidence available
- Structural context available