R337C (p.Arg337Cys) variant of F7 (Coagulation factor VII)
R337C (p.Arg337Cys) 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 not provided; Congenital factor VII deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and published literature.
R337C (p.Arg337Cys) variant details
- p.Arg337Cys
- rs139372641
- UniProt VAR 065401
- ESP rs139372641
- ExAC rs139372641
- Likely pathogenic
- not provided; Congenital factor VII deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- AlphaMissense 0.64
- MetaLR 0.75
- MetaSVM 0.48
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Likely pathogenic (not provided; Congenital factor VII deficiency)
- 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)