E27R (p.Glu27Arg) variant of PML (Protein PML)
E27R (p.Glu27Arg) in PML (Protein PML) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
E27R (p.Glu27Arg) variant details
- p.Glu27Arg
- gnomAD 15-73994884-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.232
- CADD 21.30
- Most common in the Latino/Admixed American population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available