R2109C (p.Arg2109Cys) variant of F8 (Coagulation factor VIII)
R2109C (p.Arg2109Cys) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary factor VIII deficiency disease; Thrombophilia, X-linked, due to facto. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R2109C (p.Arg2109Cys) variant details
- p.Arg2109Cys
- rs1475665992
- ClinGen CA414900031
- NCI-TCGA Cosmic COSV1008
- Likely pathogenic
- Hereditary factor VIII deficiency disease; Thrombophilia, X-linked, due to facto
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.88
- MetaLR 0.94
- MetaSVM 1.01
- CADD 26.40
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Hereditary factor VIII deficiency disease; Thrombophilia, X-link)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Most common in the Non-Finnish European population (allele frequency 1.9e-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: Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with… (PMID 10215414)