N36D (p.Asn36Asp) variant of F9 (Coagulation factor IX)
N36D (p.Asn36Asp) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
N36D (p.Asn36Asp) variant details
- p.Asn36Asp
- rs1169714103
- ClinGen CA414435396
- ClinVar RCV001393734
- TOPMed rs1169714103
- Likely benign
- Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.15
- MetaLR 0.46
- MetaSVM -0.73
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.33
- ClinVar: Likely benign (Hereditary factor IX deficiency disease; Thrombophilia, X-linked)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)