E20K (p.Glu20Lys) variant of PML (Protein PML)
E20K (p.Glu20Lys) in PML (Protein PML) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.03 / 1. The record also includes population frequency data, published literature, and structural context.
E20K (p.Glu20Lys) variant details
- p.Glu20Lys
- gnomAD 15-73994870-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0312
- REVEL 0.01
- CADD 1.16
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available