M8T (p.Met8Thr) variant of MPL (Thrombopoietin receptor)
M8T (p.Met8Thr) 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, published literature, and structural context.
M8T (p.Met8Thr) variant details
- p.Met8Thr
- gnomAD 1-43337871-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.17
- MetaLR 0.27
- MetaSVM -0.83
- CADD 18.20
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- TpoR activation by low dosage of eltrombopag: score 0.195
- Literature evidence available