D34E (p.Asp34Glu) variant of MPL (Thrombopoietin receptor)
D34E (p.Asp34Glu) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D34E (p.Asp34Glu) variant details
- p.Asp34Glu
- gnomAD 1-43338121-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.11
- MetaLR 0.22
- MetaSVM -0.72
- CADD 13.10
- PolyPhen-2 0.10
- SIFT 0.99
- Population evidence available
- Structural context available
- TpoR activation by low dosage of Tpo: score 0.614
- Literature evidence available