R391C (p.Arg391Cys) variant of F8 (Coagulation factor VIII)
R391C (p.Arg391Cys) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Hereditary factor VIII deficiency disease. 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.
R391C (p.Arg391Cys) variant details
- p.Arg391Cys
- rs137852364
- ClinGen CA255026
- NCI-TCGA Cosmic COSV6427
- ClinVar RCV000010838
- Pathogenic
- not provided; Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- AlphaMissense 0.81
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic (not provided; Hereditary factor VIII deficiency disease)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Population evidence available
- Structural context available
- Cited in: Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data. (PMID 11298607)
- Cited in: Rapid hemophilia A molecular diagnosis by a simple DNA sequencing procedure: identification of 14 novel mutations. (PMID 11341489)