L15M (p.Leu15Met) variant of MPL (Thrombopoietin receptor)
L15M (p.Leu15Met) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L15M (p.Leu15Met) variant details
- p.Leu15Met
- gnomAD 1-43337891-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.32
- MetaLR 0.42
- MetaSVM -0.61
- CADD 23.00
- PolyPhen-2 0.46
- SIFT 0.04
- Population evidence available
- Structural context available
- TpoR activation by low dosage of Tpo: score 0.587
- Literature evidence available