S42F (p.Ser42Phe) variant of MPL (Thrombopoietin receptor)
S42F (p.Ser42Phe) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S42F (p.Ser42Phe) variant details
- p.Ser42Phe
- gnomAD 1-43338144-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- REVEL 0.69
- MetaLR 0.73
- MetaSVM 0.54
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- TpoR activation by low dosage of eltrombopag: score 0.819
- Literature evidence available