D46E (p.Asp46Glu) variant of PLK1 (P53350)
D46E (p.Asp46Glu) in PLK1 (P53350) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
D46E (p.Asp46Glu) variant details
- p.Asp46Glu
- gnomAD 16-23679070-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.47
- CADD 24.20
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- Literature evidence available