G92A (p.Gly92Ala) variant of F8 (Coagulation factor VIII)
G92A (p.Gly92Ala) in F8 (Coagulation factor VIII) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HEMA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
G92A (p.Gly92Ala) variant details
- p.Gly92Ala
- rs137852381
- UniProt VAR 028463
- TOPMed rs137852381
- Pathogenic
- in HEMA
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- AlphaMissense 0.71
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Structural context available
- Cited in: Mild haemophilia A discovered in a previously multi-operated 73-year-old man: characterization of a new mutation. (PMID 11442647)
- Cited in: Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with… (PMID 10215414)