C69Y (p.Cys69Tyr) variant of F9 (Coagulation factor IX)
C69Y (p.Cys69Tyr) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes structural context.
C69Y (p.Cys69Tyr) variant details
- p.Cys69Tyr
- rs1927497998
- ClinGen CA414436035
- ClinVar RCV001810624
- Ensembl rs1927497998
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.993
- AlphaMissense 0.97
- MetaLR 1.00
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.99
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available