G498R (p.Gly498Arg) variant of F8 (Coagulation factor VIII)
G498R (p.Gly498Arg) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Hereditary factor IX deficiency disease; Hereditary factor VIII de. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G498R (p.Gly498Arg) variant details
- p.Gly498Arg
- rs137852414
- ClinGen CA255109
- ClinVar RCV000010930
- ClinVar RCV000851700
- Pathogenic
- not provided; Hereditary factor IX deficiency disease; Hereditary factor VIII de
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.98
- MetaLR 1.00
- MetaSVM 0.95
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Hereditary factor IX deficiency disease; Hereditar)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- Cited in: Start of UK confidential haemophilia A database: analysis of 142 patients by solid phase fluorescent chemical cleavage… (PMID 10404764)
- Cited in: Somatic mosaicism in hemophilia A: a fairly common event. (PMID 11410838)