R391H (p.Arg391His) variant of F8 (Coagulation factor VIII)
R391H (p.Arg391His) 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 0.83 / 1. The record also includes published literature and structural context.
R391H (p.Arg391His) variant details
- p.Arg391His
- rs28935499
- ClinGen CA120918
- ClinVar RCV000010823
- ClinVar RCV000757254
- Pathogenic
- not provided; Hereditary factor IX deficiency disease; Hereditary factor VIII de
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- AlphaMissense 0.52
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.71
- ClinVar: Pathogenic (not provided; Hereditary factor IX deficiency disease; Hereditar)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Structural context available
- Cited in: High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and… (PMID 12325022)
- Cited in: Thirty-four novel mutations detected in factor VIII gene by multiplex CSGE: modeling of 13 novel amino acid… (PMID 12871415)