C40S (p.Cys40Ser) variant of MPL (Thrombopoietin receptor)
C40S (p.Cys40Ser) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C40S (p.Cys40Ser) variant details
- p.Cys40Ser
- gnomAD 1-43338137-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.92
- MetaLR 0.97
- MetaSVM 1.10
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- TpoR activation by low dosage of romi-peptide: score 1.11
- Literature evidence available