N117D (p.Asn117Asp) variant of F7 (Coagulation factor VII)
N117D (p.Asn117Asp) in F7 (Coagulation factor VII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Factor VII deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and published literature.
N117D (p.Asn117Asp) variant details
- p.Asn117Asp
- rs121964932
- ClinGen CA256458253
- ClinVar RCV000012854
- UniProt VAR 065376
- Pathogenic
- Factor VII deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- AlphaMissense 0.59
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.73
- ClinVar: Pathogenic (Factor VII deficiency)
- EBI: Pathogenic (in FA7D)
- UniProt: Pathogenic (in FA7D)
- Population evidence available
- Cited in: Factor VII deficiency caused by a structural variant N57D of the first epidermal growth factor domain. (PMID 9414278)
- Cited in: Twenty two novel mutations of the factor VII gene in factor VII deficiency. (PMID 10862079)