R43W (p.Arg43Trp) variant of F9 (Coagulation factor IX)
R43W (p.Arg43Trp) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary factor IX deficiency disease; not specified; Thrombophilia, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R43W (p.Arg43Trp) variant details
- p.Arg43Trp
- rs1603264205
- ClinGen CA414435537
- NCI-TCGA Cosmic COSV5437
- cosmic curated COSV54378
- Pathogenic
- Hereditary factor IX deficiency disease; not specified; Thrombophilia, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.69
- MetaLR 0.89
- MetaSVM 0.63
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Hereditary factor IX deficiency disease; not specified; Thrombop)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Molecular analyses in hemophilia B families: identification of six new mutations in the factor IX gene. (PMID 12604421)
- Cited in: Haplotype analysis of identical factor IX mutants using PCR. (PMID 1615486)