E72* (p.Glu72Ter) variant of MPL (Thrombopoietin receptor)
E72* (p.Glu72Ter) in MPL (Thrombopoietin receptor) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes structural context.
E72* (p.Glu72Ter) variant details
- p.Glu72Ter
- rs1406715863
- ClinGen CA339973225
- ClinVar RCV001263972
- ClinVar RCV001383285
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.551
- AlphaMissense 0.27
- MetaLR 0.73
- MetaSVM 0.11
- PolyPhen-2 1.00
- SIFT 0.07
- EVE 0.25
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available