L6L (p.Leu6Leu) variant of MPL (Thrombopoietin receptor)
L6L (p.Leu6Leu) in MPL (Thrombopoietin receptor) is a synonymous 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.
L6L (p.Leu6Leu) variant details
- p.Leu6Leu
- rs1209678224
- gnomAD 1-43337866-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.468
- CADD 8.92
- Population evidence available
- Structural context available
- TpoR activation by high dosage of lusutrombopag: score 0.926
- Literature evidence available