A9G (p.Ala9Gly) variant of F9 (Coagulation factor IX)
A9G (p.Ala9Gly) 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 F9-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A9G (p.Ala9Gly) variant details
- p.Ala9Gly
- ExAC rs781184105
- TOPMed rs781184105
- gnomAD rs781184105
- Uncertain significance
- F9-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.40
- MetaLR 0.69
- MetaSVM 0.27
- CADD 22.30
- PolyPhen-2 0.03
- SIFT 0.00
- ClinVar: Uncertain significance (F9-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available