E2K (p.Glu2Lys) variant of PML (Protein PML)
E2K (p.Glu2Lys) in PML (Protein PML) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
E2K (p.Glu2Lys) variant details
- p.Glu2Lys
- gnomAD 15-73994816-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.11
- CADD 22.50
- PolyPhen-2 0.16
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available