T328R (p.Thr328Arg) variant of F12 (Coagulation factor XII)
T328R (p.Thr328Arg) in F12 (Coagulation factor XII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Factor XII deficiency disease; Angioedema; Hypertensive disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
T328R (p.Thr328Arg) variant details
- p.Thr328Arg
- rs118204456
- ClinGen CA114819
- ClinVar RCV000001229
- ClinVar RCV000414902
- Pathogenic
- Factor XII deficiency disease; Angioedema; Hypertensive disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- AlphaMissense 0.14
- MetaLR 0.57
- MetaSVM -0.31
- PolyPhen-2 0.91
- SIFT 0.03
- MutPred 0.82
- ClinVar: Pathogenic (Factor XII deficiency disease; Angioedema; Hypertensive disorder)
- EBI: Pathogenic (in HAE3)
- UniProt: Pathogenic (in HAE3)
- Population evidence available
- Structural context available
- Cited in: Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1… (PMID 16638441)
- Cited in: Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III. (PMID 17186468)