Q102* (p.Gln102Ter) variant of F11 (Coagulation factor XI)
Q102* (p.Gln102Ter) in F11 (Coagulation factor XI) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
Q102* (p.Gln102Ter) variant details
- p.Gln102Ter
- rs543131176
- ClinGen CA3163613
- ClinVar RCV003819200
- 1000Genomes rs543131176
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.591
- AlphaMissense 0.10
- MetaLR 0.81
- MetaSVM 0.55
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.27
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available