T10I (p.Thr10Ile) variant of MPL (Thrombopoietin receptor)
T10I (p.Thr10Ile) 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.
T10I (p.Thr10Ile) variant details
- p.Thr10Ile
- gnomAD 1-43337877-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.09
- MetaLR 0.31
- MetaSVM -0.75
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.20
- Population evidence available
- Structural context available
- TpoR activation by low dosage of Tpo: score 0.816
- Literature evidence available