V403M (p.Val403Met) variant of F11 (Coagulation factor XI)
V403M (p.Val403Met) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Coagulation factor deficiency syndrome; Hereditary factor XI deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
V403M (p.Val403Met) variant details
- p.Val403Met
- rs281875266
- ClinGen CA219102
- ClinVar RCV000059005
- ClinVar RCV000851583
- Pathogenic/Likely pathogenic
- Coagulation factor deficiency syndrome; Hereditary factor XI deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- AlphaMissense 0.25
- MetaLR 0.82
- MetaSVM 0.50
- PolyPhen-2 0.35
- SIFT 0.03
- EVE 0.26
- ClinVar: Pathogenic/Likely pathogenic (Coagulation factor deficiency syndrome; Hereditary factor XI def)
- EBI: Pathogenic (in FA11D)
- UniProt: Pathogenic (in FA11D)
- Population evidence available
- Structural context available
- Cited in: Three dominant-negative mutations in factor XI-deficient patients. (PMID 21457405)
- Cited in: Identification of a novel mutation in a non-Jewish factor XI deficient kindred. (PMID 10027710)