R612C (p.Arg612Cys) variant of F8 (Coagulation factor VIII)
R612C (p.Arg612Cys) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary factor VIII deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R612C (p.Arg612Cys) variant details
- p.Arg612Cys
- rs137852428
- ClinGen CA255129
- NCI-TCGA Cosmic COSV6426
- ClinVar RCV000010949
- Pathogenic
- Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.81
- MetaLR 0.97
- MetaSVM 1.09
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Hereditary factor VIII deficiency disease)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Most common in the Latino/Admixed American population (allele frequency 8.5e-05)
- Structural context available
- Cited in: Start of UK confidential haemophilia A database: analysis of 142 patients by solid phase fluorescent chemical cleavage… (PMID 10404764)
- Cited in: Intracellular accumulation of factor VIII induced by missense mutations Arg593-->Cys and Asn618-->Ser explains… (PMID 10691849)