Q26K (p.Gln26Lys) variant of MPL (Thrombopoietin receptor)
Q26K (p.Gln26Lys) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q26K (p.Gln26Lys) variant details
- p.Gln26Lys
- gnomAD 1-43337924-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.27
- MetaLR 0.44
- MetaSVM -0.20
- CADD 18.20
- PolyPhen-2 0.08
- SIFT 0.02
- Population evidence available
- Structural context available
- TpoR activation by high dosage of lusutrombopag: score 1.23
- Literature evidence available