R2169H (p.Arg2169His) variant of F8 (Coagulation factor VIII)
R2169H (p.Arg2169His) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Thrombophilia, X-linked, due to factor 8 defect; Hereditary factor VIII deficien. 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.
R2169H (p.Arg2169His) variant details
- p.Arg2169His
- rs137852461
- ClinGen CA255208
- ClinVar RCV000011028
- ClinVar RCV000851846
- Pathogenic
- Thrombophilia, X-linked, due to factor 8 defect; Hereditary factor VIII deficien
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- REVEL 0.96
- MetaLR 0.99
- MetaSVM 0.92
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Thrombophilia, X-linked, due to factor 8 defect; Hereditary fact)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Most common in the Non-Finnish European population (allele frequency 4.8e-06)
- Structural context available
- Cited in: Screen of 55 Slovenian haemophilia A patients: identification of 2 novel mutations (S-1R and IVS23+1G-->A) and… (PMID 10338101)
- Cited in: Start of UK confidential haemophilia A database: analysis of 142 patients by solid phase fluorescent chemical cleavage… (PMID 10404764)