E54K (p.Glu54Lys) variant of MPL (Thrombopoietin receptor)
E54K (p.Glu54Lys) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
E54K (p.Glu54Lys) variant details
- p.Glu54Lys
- Ensembl rs1570464280
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.43
- MetaLR 0.44
- MetaSVM -0.15
- CADD 26.60
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available