E72Q (p.Glu72Gln) variant of MPL (Thrombopoietin receptor)
E72Q (p.Glu72Gln) in MPL (Thrombopoietin receptor) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
E72Q (p.Glu72Gln) variant details
- p.Glu72Gln
- gnomAD rs1406715863
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.57
- AlphaMissense 0.27
- MetaLR 0.73
- MetaSVM 0.11
- CADD 26.80
- PolyPhen-2 1.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available