A429T (p.Ala429Thr) variant of F7 (Coagulation factor VII)
A429T (p.Ala429Thr) 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 0.76 / 1. The record also includes population frequency data and published literature.
A429T (p.Ala429Thr) variant details
- p.Ala429Thr
- rs755377592
- ClinGen CA7060252
- cosmic curated COSV60647
- ClinVar RCV000415275
- Likely pathogenic
- Congenital factor VII deficiency; Myocardial infarction, susceptibility to; not
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- AlphaMissense 0.58
- MetaLR 0.73
- MetaSVM 0.65
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.70
- ClinVar: Likely pathogenic (Congenital factor VII deficiency; Myocardial infarction, suscept)
- 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)