E30V (p.Glu30Val) variant of F8 (Coagulation factor VIII)
E30V (p.Glu30Val) 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 0.84 / 1. The record also includes published literature and structural context.
E30V (p.Glu30Val) variant details
- p.Glu30Val
- rs137852378
- ClinGen CA255047
- ClinVar RCV000010867
- UniProt VAR 001046
- Pathogenic
- Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- AlphaMissense 0.51
- MetaLR 0.97
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.05
- MutPred 0.74
- ClinVar: Pathogenic (Hereditary factor VIII deficiency disease)
- 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)