D27E (p.Asp27Glu) variant of MPL (Thrombopoietin receptor)
D27E (p.Asp27Glu) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D27E (p.Asp27Glu) variant details
- p.Asp27Glu
- gnomAD rs1647006325
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.10
- MetaLR 0.32
- MetaSVM -0.39
- CADD 25.70
- PolyPhen-2 0.70
- SIFT 0.03
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- TpoR activation by low dosage of romi-peptide: score 1.03