A58A (p.Ala58Ala) variant of MPL (Thrombopoietin receptor)
A58A (p.Ala58Ala) in MPL (Thrombopoietin receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A58A (p.Ala58Ala) variant details
- p.Ala58Ala
- rs141077413
- gnomAD 1-43338193-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0837
- CADD 0.43
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available
- Literature evidence available