E27Q (p.Glu27Gln) variant of PML (Protein PML)
E27Q (p.Glu27Gln) in PML (Protein PML) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
E27Q (p.Glu27Gln) variant details
- p.Glu27Gln
- gnomAD 15-73994891-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.07
- CADD 20.90
- PolyPhen-2 0.28
- SIFT 0.01
- Most common in the 1KG:MXL population (allele frequency 0.062)
- Structural context available
- Literature evidence available