M8L (p.Met8Leu) variant of MPL (Thrombopoietin receptor)
M8L (p.Met8Leu) in MPL (Thrombopoietin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes variant effect predictions, population frequency data, experimental measurements, and structural context.
M8L (p.Met8Leu) variant details
- p.Met8Leu
- 1000Genomes rs572208458
- ExAC rs572208458
- TOPMed rs572208458
- gnomAD rs572208458
- Uncertain significance
- Inborn genetic diseases
- Missense
- MetaLR 0.15
- MetaSVM -0.97
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- TpoR activation by low dosage of eltrombopag: score 0.195