P74L (p.Pro74Leu) variant of MPL (Thrombopoietin receptor)
P74L (p.Pro74Leu) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
P74L (p.Pro74Leu) variant details
- p.Pro74Leu
- gnomAD 1-43338550-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.41
- MetaLR 0.54
- MetaSVM -0.60
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available