R458C (p.Arg458Cys) variant of F8 (Coagulation factor VIII)
R458C (p.Arg458Cys) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R458C (p.Arg458Cys) variant details
- p.Arg458Cys
- rs2523950289
- ClinGen CA414914682
- ClinVar RCV003510974
- Pathogenic
- Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.84
- MetaLR 0.99
- MetaSVM 1.04
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Pathogenic (Hereditary factor VIII deficiency disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- Cited in: Hemophilia A. (PMID 20301578)
- Cited in: Clinical utility gene card for: haemophilia A. (PMID 21654722)