G51E (p.Gly51Glu) variant of F10 (Coagulation factor X)
G51E (p.Gly51Glu) in F10 (Coagulation factor X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Factor X deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes structural context.
G51E (p.Gly51Glu) variant details
- p.Gly51Glu
- rs751782758
- ClinGen CA388787571
- ClinVar RCV001420415
- ExAC rs751782758
- Uncertain significance
- Factor X deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- AlphaMissense 0.42
- MetaLR 1.00
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.80
- ClinVar: Uncertain significance (Factor X deficiency)
- EBI: Variant of uncertain significance (in FA10D)
- UniProt: Uncertain significance (in FA10D)
- Structural context available