A16T (p.Ala16Thr) variant of MPL (Thrombopoietin receptor)
A16T (p.Ala16Thr) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A16T (p.Ala16Thr) variant details
- p.Ala16Thr
- 1000Genomes rs541014818
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.13
- MetaLR 0.26
- MetaSVM -0.84
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.16
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- TpoR activation by high dosage of lusutrombopag: score 1.14