S3Y (p.Ser3Tyr) variant of MPL (Thrombopoietin receptor)
S3Y (p.Ser3Tyr) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S3Y (p.Ser3Tyr) variant details
- p.Ser3Tyr
- gnomAD 1-43337856-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.25
- MetaLR 0.28
- MetaSVM -0.72
- CADD 21.70
- PolyPhen-2 0.17
- SIFT 0.01
- Population evidence available
- Structural context available
- TpoR activation by high dosage of lusutrombopag: score 0.739
- Literature evidence available