D34G (p.Asp34Gly) variant of MPL (Thrombopoietin receptor)
D34G (p.Asp34Gly) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D34G (p.Asp34Gly) variant details
- p.Asp34Gly
- gnomAD 1-43338120-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.16
- MetaLR 0.28
- MetaSVM -0.87
- CADD 20.00
- PolyPhen-2 0.05
- SIFT 0.43
- Population evidence available
- Structural context available
- TpoR activation by low dosage of Tpo: score 0.614
- Literature evidence available