R1768H (p.Arg1768His) variant of F8 (Coagulation factor VIII)
R1768H (p.Arg1768His) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R1768H (p.Arg1768His) variant details
- p.Arg1768His
- rs151202877
- ClinGen CA10568007
- ClinVar RCV000852151
- ClinVar RCV003509601
- Pathogenic
- Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.82
- MetaLR 0.94
- MetaSVM 1.00
- CADD 23.30
- PolyPhen-2 0.74
- SIFT 0.04
- ClinVar: Pathogenic (Hereditary factor VIII deficiency disease)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Most common in the Finnish in Finland (FIN) population (allele frequency 4.9e-05)
- Structural context available
- Cited in: Thirty-four novel mutations detected in factor VIII gene by multiplex CSGE: modeling of 13 novel amino acid… (PMID 12871415)
- Cited in: Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with… (PMID 10215414)