R1800H (p.Arg1800His) variant of F8 (Coagulation factor VIII)
R1800H (p.Arg1800His) 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R1800H (p.Arg1800His) variant details
- p.Arg1800His
- rs137852442
- ClinGen CA255162
- NCI-TCGA Cosmic COSV1008
- ClinVar RCV000010987
- Pathogenic
- Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- REVEL 0.96
- MetaLR 0.97
- MetaSVM 1.11
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (Hereditary factor VIII deficiency disease)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Most common in the Non-Finnish European population (allele frequency 1.2e-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: Non-inversion factor VIII mutations in 80 hemophilia A families including 24 with alloimmune responses. (PMID 11858487)