R17Q (p.Arg17Gln) variant of PML (Protein PML)
R17Q (p.Arg17Gln) in PML (Protein PML) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
R17Q (p.Arg17Gln) variant details
- p.Arg17Gln
- gnomAD 15-73994862-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0486
- REVEL 0.03
- CADD 3.73
- PolyPhen-2 0.04
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available