L15P (p.Leu15Pro) variant of MPL (Thrombopoietin receptor)
L15P (p.Leu15Pro) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L15P (p.Leu15Pro) variant details
- p.Leu15Pro
- gnomAD rs1263040078
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.23
- MetaLR 0.31
- MetaSVM -0.67
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- TpoR activation by low dosage of Tpo: score 0.587