G139D (p.Gly139Asp) variant of F9 (Coagulation factor IX)
G139D (p.Gly139Asp) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not specified; Hereditary factor IX deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G139D (p.Gly139Asp) variant details
- p.Gly139Asp
- rs1216516070
- ClinGen CA414438867
- ClinVar RCV001000187
- ClinVar RCV004689950
- Pathogenic/Likely pathogenic
- not specified; Hereditary factor IX deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- AlphaMissense 0.86
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.58
- ClinVar: Pathogenic/Likely pathogenic (not specified; Hereditary factor IX deficiency disease)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Population evidence available
- Structural context available
- Cited in: Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994. (PMID 7937052)
- Cited in: Identification of twenty-one new mutations in the factor IX gene by SSCP analysis. (PMID 10094553)