T150M (p.Thr150Met) variant of F11 (Coagulation factor XI)
T150M (p.Thr150Met) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary factor XI deficiency disease; Plasma factor XI deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
T150M (p.Thr150Met) variant details
- p.Thr150Met
- rs1340928778
- ClinGen CA358958674
- ClinVar RCV000671578
- TOPMed rs1340928778
- Likely pathogenic
- Hereditary factor XI deficiency disease; Plasma factor XI deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- AlphaMissense 0.82
- MetaLR 0.89
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.56
- ClinVar: Likely pathogenic (Hereditary factor XI deficiency disease; Plasma factor XI defici)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available