S25T (p.Ser25Thr) variant of MPL (Thrombopoietin receptor)
S25T (p.Ser25Thr) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S25T (p.Ser25Thr) variant details
- p.Ser25Thr
- gnomAD 1-43337922-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.48
- MetaLR 0.69
- MetaSVM -0.01
- CADD 22.70
- PolyPhen-2 0.91
- SIFT 0.00
- Population evidence available
- Structural context available
- TpoR activation by low dosage of Tpo: score 0.793
- Literature evidence available