P59L (p.Pro59Leu) variant of MPL (Thrombopoietin receptor)
P59L (p.Pro59Leu) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
P59L (p.Pro59Leu) variant details
- p.Pro59Leu
- gnomAD 1-43338195-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.33
- MetaLR 0.39
- MetaSVM -0.44
- CADD 23.30
- PolyPhen-2 0.46
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available