G412A (p.Gly412Ala) variant of F9 (Coagulation factor IX)
G412A (p.Gly412Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
G412A (p.Gly412Ala) variant details
- p.Gly412Ala
- rs1233706534
- ClinVar RCV004577667
- Uncertain significance
- Hereditary factor IX deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.964
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Uncertain significance (Hereditary factor IX deficiency disease)
- EBI: Variant of uncertain significance (in HEMB)
- UniProt: Uncertain significance (in HEMB)
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)