Q102E (p.Gln102Glu) variant of F11 (Coagulation factor XI)
Q102E (p.Gln102Glu) in F11 (Coagulation factor XI) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
Q102E (p.Gln102Glu) variant details
- p.Gln102Glu
- 1000Genomes rs543131176
- ExAC rs543131176
- gnomAD rs543131176
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.55
- ESM-1b 0.13
- AlphaMissense 0.10
- MetaLR 0.81
- MetaSVM 0.55
- CADD 24.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available