C12Y (p.Cys12Tyr) variant of MPL (Thrombopoietin receptor)
C12Y (p.Cys12Tyr) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, and structural context.
C12Y (p.Cys12Tyr) variant details
- p.Cys12Tyr
- Ensembl rs2153916105
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.35
- MetaLR 0.33
- MetaSVM -0.50
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- TpoR activation by high dosage of lusutrombopag: score 0.908