S3F (p.Ser3Phe) variant of MPL (Thrombopoietin receptor)
S3F (p.Ser3Phe) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S3F (p.Ser3Phe) variant details
- p.Ser3Phe
- gnomAD 1-43337856-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.13
- MetaLR 0.28
- MetaSVM -0.80
- CADD 18.60
- PolyPhen-2 0.01
- SIFT 0.07
- Population evidence available
- Structural context available
- TpoR activation by high dosage of lusutrombopag: score 0.739
- Literature evidence available