W587S (p.Trp587Ser) variant of F11 (Coagulation factor XI)
W587S (p.Trp587Ser) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary factor XI deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
W587S (p.Trp587Ser) variant details
- p.Trp587Ser
- rs121965072
- ClinGen CA121769
- ClinVar RCV000012679
- UniProt VAR 054905
- Pathogenic
- Hereditary factor XI deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- AlphaMissense 0.79
- MetaLR 0.90
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Pathogenic (Hereditary factor XI deficiency disease)
- EBI: Pathogenic (in FA11D)
- UniProt: Pathogenic (in FA11D)
- Structural context available
- Cited in: Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain. (PMID 15026311)
- Cited in: Identification of a novel mutation in a non-Jewish factor XI deficient kindred. (PMID 10027710)