P9Q (p.Pro9Gln) variant of PML (Protein PML)
P9Q (p.Pro9Gln) in PML (Protein PML) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
P9Q (p.Pro9Gln) variant details
- p.Pro9Gln
- gnomAD 15-73994838-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.06
- CADD 21.20
- PolyPhen-2 0.82
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available
- Literature evidence available