R17L (p.Arg17Leu) variant of PML (Protein PML)
R17L (p.Arg17Leu) in PML (Protein PML) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
R17L (p.Arg17Leu) variant details
- p.Arg17Leu
- gnomAD 15-73994862-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0379
- REVEL 0.01
- CADD 0.19
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available