P18R (p.Pro18Arg) variant of PML (Protein PML)
P18R (p.Pro18Arg) in PML (Protein PML) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
P18R (p.Pro18Arg) variant details
- p.Pro18Arg
- gnomAD 15-73994865-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.02
- CADD 13.10
- PolyPhen-2 0.29
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available