D117Y (p.Asp117Tyr) variant of F11 (Coagulation factor XI)
D117Y (p.Asp117Tyr) 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 Plasma factor XI deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes structural context.
D117Y (p.Asp117Tyr) variant details
- p.Asp117Tyr
- TOPMed rs1195858790
- gnomAD rs1195858790
- Uncertain significance
- Plasma factor XI deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.40
- ESM-1b 1.00
- AlphaMissense 0.15
- MetaLR 0.84
- MetaSVM 0.35
- CADD 18.55
- ClinVar: Uncertain significance (Plasma factor XI deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available