G89V (p.Gly89Val) variant of F8 (Coagulation factor VIII)
G89V (p.Gly89Val) 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 0.96 / 1. The record also includes published literature and structural context.
G89V (p.Gly89Val) variant details
- p.Gly89Val
- rs137852380
- UniProt VAR 001051
- TOPMed rs137852380
- Pathogenic
- in HEMA
- Missense
- Variant Prioritization Score for Impact Estimate 0.957
- AlphaMissense 0.91
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.84
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Structural context available
- Cited in: Amino acid substitutions in conserved domains of factor VIII and related proteins: study of patients with mild and… (PMID 1301932)
- Cited in: Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with… (PMID 10215414)