T10A (p.Thr10Ala) variant of MPL (Thrombopoietin receptor)
T10A (p.Thr10Ala) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T10A (p.Thr10Ala) variant details
- p.Thr10Ala
- gnomAD 1-43337876-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.08
- MetaLR 0.31
- MetaSVM -0.81
- CADD 20.20
- PolyPhen-2 0.01
- SIFT 0.13
- Population evidence available
- Structural context available
- TpoR activation by low dosage of Tpo: score 0.816
- Literature evidence available