A5T (p.Ala5Thr) variant of MPL (Thrombopoietin receptor)
A5T (p.Ala5Thr) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A5T (p.Ala5Thr) variant details
- p.Ala5Thr
- TOPMed rs1356606287
- gnomAD rs1356606287
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.31
- MetaLR 0.48
- MetaSVM -0.53
- CADD 24.40
- PolyPhen-2 0.63
- SIFT 0.04
- Population evidence available
- Structural context available
- TpoR activation by low dosage of Tpo: score 0.328