R364Q (p.Arg364Gln) variant of F7 (Coagulation factor VII)
R364Q (p.Arg364Gln) 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 0.52 / 1. The record also includes population frequency data and published literature.
R364Q (p.Arg364Gln) variant details
- p.Arg364Gln
- rs121964926
- ClinGen CA7060219
- cosmic curated COSV10066
- ClinVar RCV000479479
- Likely pathogenic
- Congenital factor VII deficiency; Myocardial infarction, susceptibility to; not
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- AlphaMissense 0.27
- MetaLR 0.51
- MetaSVM -0.04
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.73
- ClinVar: Likely pathogenic (F7-related disorder)
- EBI: Pathogenic (in FA7D)
- UniProt: Pathogenic (in FA7D)
- Population evidence available
- Cited in: Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7). (PMID 1634227)
- Cited in: Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the… (PMID 18976247)