P2H (p.Pro2His) variant of MPL (Thrombopoietin receptor)
P2H (p.Pro2His) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P2H (p.Pro2His) variant details
- p.Pro2His
- gnomAD 1-43337853-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.46
- MetaLR 0.72
- MetaSVM 0.59
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- TpoR activation by low dosage of romi-peptide: score 1.39
- Literature evidence available