E27G (p.Glu27Gly) variant of PML (Protein PML)
E27G (p.Glu27Gly) 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.
E27G (p.Glu27Gly) variant details
- p.Glu27Gly
- gnomAD 15-73994892-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.02
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available