D119E (p.Asp119Glu) variant of F11 (Coagulation factor XI)
D119E (p.Asp119Glu) 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 not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
D119E (p.Asp119Glu) variant details
- p.Asp119Glu
- gnomAD rs1161966488
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.45
- ESM-1b 0.00
- AlphaMissense 0.41
- MetaLR 0.60
- MetaSVM -0.01
- CADD 16.47
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available