F156Y (p.Phe156Tyr) variant of F11 (Coagulation factor XI)
F156Y (p.Phe156Tyr) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
F156Y (p.Phe156Tyr) variant details
- p.Phe156Tyr
- ESP rs144674776
- ExAC rs144674776
- TOPMed rs144674776
- gnomAD rs144674776
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.41
- ESM-1b 1.00
- AlphaMissense 0.19
- MetaLR 0.68
- MetaSVM 0.22
- CADD 21.10
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available