M8R (p.Met8Arg) variant of MPL (Thrombopoietin receptor)
M8R (p.Met8Arg) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M8R (p.Met8Arg) variant details
- p.Met8Arg
- gnomAD rs1557462638
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.46
- MetaLR 0.27
- MetaSVM -0.78
- CADD 21.40
- PolyPhen-2 0.05
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- TpoR activation by low dosage of eltrombopag: score 0.195