G439V (p.Gly439Val) variant of F8 (Coagulation factor VIII)
G439V (p.Gly439Val) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G439V (p.Gly439Val) variant details
- p.Gly439Val
- rs1362305882
- ClinGen CA414915108
- ClinVar RCV003657337
- ClinVar RCV003987908
- Pathogenic
- Hereditary factor VIII deficiency disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.96
- AlphaMissense 0.84
- MetaLR 0.98
- MetaSVM 1.06
- CADD 24.60
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Hereditary factor VIII deficiency disease; not provided)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available
- Cited in: High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and… (PMID 12325022)
- Cited in: Use of denaturing gradient gel blots to screen for point mutations in the factor VIII gene. (PMID 9829908)