I15N (p.Ile15Asn) variant of F9 (Coagulation factor IX)
I15N (p.Ile15Asn) 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 0.52 / 1. The record also includes published literature and structural context.
I15N (p.Ile15Asn) variant details
- p.Ile15Asn
- rs1927326780
- ClinGen CA414434301
- ClinVar RCV001202940
- Ensembl rs1927326780
- Uncertain significance
- Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- AlphaMissense 0.27
- MetaLR 0.67
- MetaSVM -0.17
- PolyPhen-2 0.20
- SIFT 0.00
- MutPred 0.57
- ClinVar: Uncertain significance (Hereditary factor IX deficiency disease; Thrombophilia, X-linked)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)