R307H (p.Arg307His) variant of F7 (Coagulation factor VII)
R307H (p.Arg307His) in F7 (Coagulation factor VII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Congenital factor VII deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R307H (p.Arg307His) variant details
- p.Arg307His
- rs121964929
- ClinGen CA7060168
- ClinVar RCV001508717
- ClinVar RCV001843373
- Pathogenic/Likely pathogenic
- Congenital factor VII deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- AlphaMissense 0.07
- MetaLR 0.46
- MetaSVM -0.56
- PolyPhen-2 0.43
- SIFT 0.15
- EVE 0.33
- ClinVar: Pathogenic/Likely pathogenic (Congenital factor VII deficiency; not provided)
- EBI: Pathogenic (in FA7D)
- UniProt: Pathogenic (in FA7D)
- Population evidence available
- Structural context available
- Cited in: Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the… (PMID 18976247)
- Cited in: Factor VII Mie: homozygous asymptomatic type I deficiency caused by an amino acid substitution of His (CAC) for… (PMID 7974346)