E320D (p.Glu320Asp) variant of F9 (Coagulation factor IX)
E320D (p.Glu320Asp) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
E320D (p.Glu320Asp) variant details
- p.Glu320Asp
- rs1489951549
- ClinGen CA414444957
- ClinVar RCV000806073
- TOPMed rs1489951549
- Uncertain significance
- Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- AlphaMissense 0.80
- MetaLR 0.68
- MetaSVM 0.26
- PolyPhen-2 0.92
- SIFT 0.01
- EVE 0.57
- ClinVar: Uncertain significance (Hereditary factor IX deficiency disease; Thrombophilia, X-linked)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)