E36G (p.Glu36Gly) variant of MPL (Thrombopoietin receptor)
E36G (p.Glu36Gly) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E36G (p.Glu36Gly) variant details
- p.Glu36Gly
- gnomAD 1-43338126-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.55
- MetaLR 0.59
- MetaSVM 0.43
- CADD 24.80
- PolyPhen-2 0.43
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- TpoR activation by low dosage of Tpo: score 0.7
- Literature evidence available