E30G (p.Glu30Gly) variant of F8 (Coagulation factor VIII)
E30G (p.Glu30Gly) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary factor VIII deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
E30G (p.Glu30Gly) variant details
- p.Glu30Gly
- rs137852378
- ClinGen CA414920550
- ClinVar RCV001803537
- Ensembl rs137852378
- Uncertain significance
- Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- AlphaMissense 0.51
- MetaLR 0.97
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.05
- MutPred 0.74
- ClinVar: Uncertain significance (Hereditary factor VIII deficiency disease)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Structural context available
- Cited in: Hemophilia A. (PMID 20301578)
- Cited in: Clinical utility gene card for: haemophilia A. (PMID 21654722)