E63D (p.Glu63Asp) variant of F9 (Coagulation factor IX)
E63D (p.Glu63Asp) 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 not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes structural context.
E63D (p.Glu63Asp) variant details
- p.Glu63Asp
- rs762447016
- ClinGen CA414435937
- ClinVar RCV001001243
- ExAC rs762447016
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.958
- AlphaMissense 0.95
- MetaLR 1.00
- MetaSVM 0.84
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.97
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available