A337V (p.Ala337Val) variant of F9 (Coagulation factor IX)
A337V (p.Ala337Val) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary factor IX deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
A337V (p.Ala337Val) variant details
- p.Ala337Val
- rs1928111051
- ClinVar RCV004577674
- TOPMed rs1928111051
- Pathogenic
- Hereditary factor IX deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- AlphaMissense 0.40
- MetaLR 0.80
- MetaSVM 0.76
- PolyPhen-2 1.00
- SIFT 0.07
- EVE 0.48
- ClinVar: Pathogenic (Hereditary factor IX deficiency disease)
- 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)