E54E (p.Glu54Glu) variant of MPL (Thrombopoietin receptor)
E54E (p.Glu54Glu) in MPL (Thrombopoietin receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E54E (p.Glu54Glu) variant details
- p.Glu54Glu
- rs761922496
- gnomAD 1-43338181-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.335
- CADD 8.20
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available
- Literature evidence available