D315G (p.Asp315Gly) variant of F9 (Coagulation factor IX)
D315G (p.Asp315Gly) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Thrombophilia, X-linked, due to factor 9 defect; Hereditary factor IX deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes population frequency data, published literature, and structural context.
D315G (p.Asp315Gly) variant details
- p.Asp315Gly
- rs1928107434
- ClinGen CA414444885
- ClinVar RCV003783789
- TOPMed rs1928107434
- Pathogenic
- Thrombophilia, X-linked, due to factor 9 defect; Hereditary factor IX deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.967
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Pathogenic (Thrombophilia, X-linked, due to factor 9 defect; Hereditary fact)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)