Q18E (p.Gln18Glu) variant of MPL (Thrombopoietin receptor)
Q18E (p.Gln18Glu) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q18E (p.Gln18Glu) variant details
- p.Gln18Glu
- gnomAD 1-43337900-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.17
- MetaLR 0.32
- MetaSVM -0.84
- CADD 12.20
- PolyPhen-2 0.01
- SIFT 0.44
- Population evidence available
- Structural context available
- TpoR activation by low dosage of eltrombopag: score 1.2
- Literature evidence available