E2D (p.Glu2Asp) variant of PML (Protein PML)
E2D (p.Glu2Asp) in PML (Protein PML) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
E2D (p.Glu2Asp) variant details
- p.Glu2Asp
- gnomAD 15-73994818-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0559
- REVEL 0.02
- CADD 6.30
- PolyPhen-2 0.00
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available