Q12K (p.Gln12Lys) variant of PML (Protein PML)
Q12K (p.Gln12Lys) 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.
Q12K (p.Gln12Lys) variant details
- p.Gln12Lys
- gnomAD 15-73994846-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.05
- CADD 11.50
- PolyPhen-2 0.12
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available