R2323C (p.Arg2323Cys) variant of F8 (Coagulation factor VIII)
R2323C (p.Arg2323Cys) 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 Hereditary factor VIII deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R2323C (p.Arg2323Cys) variant details
- p.Arg2323Cys
- rs137852473
- ClinGen CA255225
- ClinVar RCV000011046
- UniProt VAR 001209
- Pathogenic/Likely pathogenic
- Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.76
- MetaLR 0.98
- MetaSVM 0.93
- CADD 22.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary factor VIII deficiency disease)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Cited in: Hemophilic factor VIII C1- and C2-domain missense mutations and their modeling to the 1.5-angstrom human C2-domain… (PMID 10910913)
- Cited in: High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and… (PMID 12325022)