T51P (p.Thr51Pro) variant of F11 (Coagulation factor XI)
T51P (p.Thr51Pro) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Plasma factor XI deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
T51P (p.Thr51Pro) variant details
- p.Thr51Pro
- rs281875243
- ClinGen CA219116
- NCI-TCGA Cosmic COSV5301
- cosmic curated COSV53010
- Pathogenic
- Plasma factor XI deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- AlphaMissense 0.52
- MetaLR 0.85
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Pathogenic (Plasma factor XI deficiency)
- EBI: Pathogenic (in FA11D)
- UniProt: Pathogenic (in FA11D)
- Structural context available
- Cited in: Seven novel point mutations in the F11 gene in Iranian FXI-deficient patients. (PMID 18005151)
- Cited in: Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion… (PMID 22159456)