R2178H (p.Arg2178His) variant of F8 (Coagulation factor VIII)
R2178H (p.Arg2178His) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R2178H (p.Arg2178His) variant details
- p.Arg2178His
- rs137852465
- ClinGen CA255212
- cosmic curated COSV57705
- ClinVar RCV000011032
- Pathogenic/Likely pathogenic
- not provided; Hereditary factor IX deficiency disease; Hereditary factor VIII de
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.82
- MetaLR 0.95
- MetaSVM 1.06
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hereditary factor IX deficiency disease; Hereditar)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Most common in the Ashkenazi Jewish population (allele frequency 5.2e-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: Molecular etiology of factor VIII deficiency in hemophilia A. (PMID 7728145)