Q2208E (p.Gln2208Glu) variant of F8 (Coagulation factor VIII)
Q2208E (p.Gln2208Glu) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary factor VIII deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
Q2208E (p.Gln2208Glu) variant details
- p.Gln2208Glu
- rs1472169963
- ClinGen CA414905992
- ClinVar RCV001000941
- ClinVar RCV002481798
- Pathogenic
- Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.80
- MetaLR 0.97
- MetaSVM 1.10
- CADD 24.30
- PolyPhen-2 0.90
- SIFT 0.01
- ClinVar: Pathogenic (Hereditary factor VIII deficiency disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 9.5e-05)
- Structural context available
- Cited in: Hemophilia A. (PMID 20301578)
- Cited in: Clinical utility gene card for: haemophilia A. (PMID 21654722)