R287W (p.Arg287Trp) variant of F10 (Coagulation factor X)
R287W (p.Arg287Trp) in F10 (Coagulation factor X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Factor X deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
R287W (p.Arg287Trp) variant details
- p.Arg287Trp
- rs121964948
- ClinGen CA121840
- ClinVar RCV000012839
- Ensembl rs121964948
- Pathogenic
- Factor X deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- AlphaMissense 0.29
- MetaLR 0.78
- MetaSVM 0.66
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.61
- ClinVar: Pathogenic (Factor X deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Molecular analysis of the genotype-phenotype relationship in factor X deficiency. (PMID 10746568)
- Cited in: Factor X Stockton: a mild bleeding diathesis associated with an active site mutation in factor X. (PMID 8845463)