P2L (p.Pro2Leu) variant of MPL (Thrombopoietin receptor)
P2L (p.Pro2Leu) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P2L (p.Pro2Leu) variant details
- p.Pro2Leu
- 1000Genomes rs188798468
- ExAC rs188798468
- TOPMed rs188798468
- gnomAD rs188798468
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.53
- MetaLR 0.72
- MetaSVM 0.54
- CADD 24.70
- PolyPhen-2 0.78
- SIFT 0.00
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- TpoR activation by low dosage of romi-peptide: score 1.39