E31D (p.Glu31Asp) variant of PML (Protein PML)
E31D (p.Glu31Asp) in PML (Protein PML) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E31D (p.Glu31Asp) variant details
- p.Glu31Asp
- gnomAD 15-73994905-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.08
- CADD 19.70
- PolyPhen-2 0.91
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available