Q12H (p.Gln12His) variant of PML (Protein PML)
Q12H (p.Gln12His) in PML (Protein PML) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
Q12H (p.Gln12His) variant details
- p.Gln12His
- gnomAD 15-73994848-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.05
- CADD 18.30
- PolyPhen-2 0.64
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available