D53D (p.Asp53Asp) variant of MPL (Thrombopoietin receptor)
D53D (p.Asp53Asp) in MPL (Thrombopoietin receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
D53D (p.Asp53Asp) variant details
- p.Asp53Asp
- rs753950108
- gnomAD 1-43338178-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.251
- CADD 9.09
- Population evidence available
- Structural context available
- Literature evidence available