E54A (p.Glu54Ala) variant of MPL (Thrombopoietin receptor)
E54A (p.Glu54Ala) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E54A (p.Glu54Ala) variant details
- p.Glu54Ala
- gnomAD 1-43338180-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.44
- MetaLR 0.26
- MetaSVM -0.51
- CADD 23.10
- PolyPhen-2 0.27
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available