T328K (p.Thr328Lys) variant of F12 (Coagulation factor XII)
T328K (p.Thr328Lys) in F12 (Coagulation factor XII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary angioedema types I and II; Hereditary angioneurotic edema; Factor XII. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
T328K (p.Thr328Lys) variant details
- p.Thr328Lys
- rs118204456
- ClinGen CA114817
- ClinVar RCV000001228
- ClinVar RCV000222890
- Pathogenic
- Hereditary angioedema types I and II; Hereditary angioneurotic edema; Factor XII
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.51
- AlphaMissense 0.14
- MetaLR 0.57
- MetaSVM -0.31
- CADD 21.90
- PolyPhen-2 0.91
- ClinVar: Pathogenic (Hereditary angioedema types I and II; Hereditary angioneurotic e)
- EBI: Pathogenic (in HAE3)
- UniProt: Pathogenic (in HAE3)
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available
- Cited in: Clinical, biochemical, and genetic characterization of a novel estrogen-dependent inherited form of angioedema. (PMID 10984376)
- Cited in: Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1… (PMID 16638441)