E36Q (p.Glu36Gln) variant of MPL (Thrombopoietin receptor)
E36Q (p.Glu36Gln) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E36Q (p.Glu36Gln) variant details
- p.Glu36Gln
- gnomAD rs1647006474
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.39
- MetaLR 0.57
- MetaSVM 0.19
- CADD 23.80
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- TpoR activation by low dosage of Tpo: score 0.7