T314P (p.Thr314Pro) variant of F8 (Coagulation factor VIII)
T314P (p.Thr314Pro) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary factor VIII deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
T314P (p.Thr314Pro) variant details
- p.Thr314Pro
- rs137852406
- ClinGen CA414917836
- ClinVar RCV001802670
- TOPMed rs137852406
- Uncertain significance
- Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- AlphaMissense 0.57
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Uncertain significance (Hereditary factor VIII deficiency disease)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Structural context available
- Cited in: Hemophilia A. (PMID 20301578)
- Cited in: Clinical utility gene card for: haemophilia A. (PMID 21654722)