R1960Q (p.Arg1960Gln) variant of F8 (Coagulation factor VIII)
R1960Q (p.Arg1960Gln) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hereditary factor VIII deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R1960Q (p.Arg1960Gln) variant details
- p.Arg1960Gln
- rs28937294
- ClinGen CA255019
- ClinVar RCV000010822
- ClinVar RCV000756109
- Pathogenic/Likely pathogenic
- not provided; Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- MutPred 0.91
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hereditary factor VIII deficiency disease)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Population evidence available
- Structural context available
- Cited in: GAA(Glu)272----AAA(Lys) and CGA(Arg)1941----CAA(Gln) in the factor VIII gene in two haemophilia A patients of Czech… (PMID 1356412)
- Cited in: A transcribed gene in an intron of the human factor VIII gene. (PMID 2110545)