E54V (p.Glu54Val) variant of F9 (Coagulation factor IX)
E54V (p.Glu54Val) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes structural context.
E54V (p.Glu54Val) variant details
- p.Glu54Val
- rs1569481966
- ClinGen CA414435761
- ClinVar RCV000756129
- Ensembl rs1569481966
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- AlphaMissense 0.77
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.93
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in HEMB)
- UniProt: Likely pathogenic (in HEMB)
- Structural context available