L48H (p.Leu48His) variant of MPL (Thrombopoietin receptor)
L48H (p.Leu48His) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L48H (p.Leu48His) variant details
- p.Leu48His
- gnomAD 1-43338162-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.78
- MetaLR 0.56
- MetaSVM 0.22
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- TpoR activation by high dosage of lusutrombopag: score 0.449
- Literature evidence available