E27D (p.Glu27Asp) variant of PML (Protein PML)
E27D (p.Glu27Asp) in PML (Protein PML) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
E27D (p.Glu27Asp) variant details
- p.Glu27Asp
- TOPMed rs979739048
- gnomAD rs979739048
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.04
- CADD 5.94
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available