R364W (p.Arg364Trp) variant of F7 (Coagulation factor VII)
R364W (p.Arg364Trp) in F7 (Coagulation factor VII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital factor VII deficiency; Myocardial infarction, susceptibility to; not. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and published literature.
R364W (p.Arg364Trp) variant details
- p.Arg364Trp
- rs750980786
- ClinGen CA7060217
- NCI-TCGA Cosmic COSV1006
- NCI-TCGA Cosmic COSV6064
- Likely pathogenic
- Congenital factor VII deficiency; Myocardial infarction, susceptibility to; not
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- AlphaMissense 0.41
- MetaLR 0.73
- MetaSVM 0.33
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Likely pathogenic (F7-related disorder)
- EBI: Pathogenic (in FA7D)
- UniProt: Pathogenic (in FA7D)
- Population evidence available
- Cited in: Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the… (PMID 18976247)
- Cited in: Twenty two novel mutations of the factor VII gene in factor VII deficiency. (PMID 10862079)