G41C (p.Gly41Cys) variant of F8 (Coagulation factor VIII)
G41C (p.Gly41Cys) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary factor VIII deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
G41C (p.Gly41Cys) variant details
- p.Gly41Cys
- rs137852379
- ClinGen CA255048
- ClinVar RCV000010869
- ClinVar RCV002247317
- Likely benign
- Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.54
- MetaLR 0.90
- MetaSVM 0.66
- CADD 17.30
- PolyPhen-2 0.55
- SIFT 0.06
- ClinVar: Likely benign (Hereditary factor VIII deficiency disease)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00034)
- Structural context available
- Cited in: The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Variant Databases: Important… (PMID 32166871)
- Cited in: Molecular etiology of factor VIII deficiency in hemophilia A. (PMID 7728145)