Q12R (p.Gln12Arg) variant of PML (Protein PML)
Q12R (p.Gln12Arg) in PML (Protein PML) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
Q12R (p.Gln12Arg) variant details
- p.Gln12Arg
- gnomAD 15-73994847-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.09
- CADD 14.00
- PolyPhen-2 0.26
- SIFT 0.05
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available