E46G (p.Glu46Gly) variant of MPL (Thrombopoietin receptor)
E46G (p.Glu46Gly) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E46G (p.Glu46Gly) variant details
- p.Glu46Gly
- gnomAD 1-43338156-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.74
- MetaLR 0.51
- MetaSVM 0.07
- CADD 27.80
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- TpoR activation by low dosage of lusutrombopag: score 0.658
- Literature evidence available