E20V (p.Glu20Val) variant of PML (Protein PML)
E20V (p.Glu20Val) in PML (Protein PML) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
E20V (p.Glu20Val) variant details
- p.Glu20Val
- gnomAD 15-73994871-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0861
- REVEL 0.03
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available