L6F (p.Leu6Phe) variant of MPL (Thrombopoietin receptor)
L6F (p.Leu6Phe) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L6F (p.Leu6Phe) variant details
- p.Leu6Phe
- gnomAD 1-43337864-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.42
- MetaLR 0.56
- MetaSVM -0.28
- CADD 20.90
- PolyPhen-2 0.07
- SIFT 0.19
- Population evidence available
- Structural context available
- TpoR activation by high dosage of lusutrombopag: score 0.926
- Literature evidence available