A5D (p.Ala5Asp) variant of MPL (Thrombopoietin receptor)
A5D (p.Ala5Asp) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A5D (p.Ala5Asp) variant details
- p.Ala5Asp
- gnomAD 1-43337862-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.44
- MetaLR 0.51
- MetaSVM -0.47
- CADD 24.50
- PolyPhen-2 0.74
- SIFT 0.01
- Population evidence available
- Structural context available
- TpoR activation by low dosage of Tpo: score 0.328
- Literature evidence available