E63E (p.Glu63Glu) variant of F9 (Coagulation factor IX)
E63E (p.Glu63Glu) in F9 (Coagulation factor IX) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
E63E (p.Glu63Glu) variant details
- p.Glu63Glu
- rs762447016
- gnomAD X-139537110-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.463
- AlphaMissense 0.95
- MetaLR 1.00
- MetaSVM 0.84
- CADD 8.65
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 6.6e-05)
- Structural context available
- Literature evidence available