P5L (p.Pro5Leu) variant of PML (Protein PML)
P5L (p.Pro5Leu) in PML (Protein PML) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P5L (p.Pro5Leu) variant details
- p.Pro5Leu
- gnomAD 15-73994826-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.05
- CADD 18.80
- PolyPhen-2 0.09
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- Literature evidence available