A397V (p.Ala397Val) variant of F9 (Coagulation factor IX)
A397V (p.Ala397Val) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
A397V (p.Ala397Val) variant details
- p.Ala397Val
- rs758194285
- ClinGen CA10529878
- ClinVar RCV003050661
- ExAC rs758194285
- Pathogenic
- Thrombophilia, X-linked, due to factor 9 defect; Hereditary factor IX deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.96
- MetaLR 0.91
- MetaSVM 1.03
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Thrombophilia, X-linked, due to factor 9 defect; Hereditary fact)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)