R2182C (p.Arg2182Cys) variant of F8 (Coagulation factor VIII)
R2182C (p.Arg2182Cys) 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R2182C (p.Arg2182Cys) variant details
- p.Arg2182Cys
- rs137852467
- ClinGen CA255214
- NCI-TCGA Cosmic COSV5770
- cosmic curated COSV57704
- Pathogenic
- Thrombophilia, X-linked, due to factor 8 defect; Hereditary factor VIII deficien
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.96
- MetaLR 0.98
- MetaSVM 1.02
- CADD 31.00
- 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 African/African-American population (allele frequency 3.3e-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: Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data. (PMID 11298607)