p.Gln34 Pro35insAlaSer variant of PML (Protein PML)
p.Gln34 Pro35insAlaSer in PML (Protein PML) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
p.Gln34 Pro35insAlaSer variant details
- gnomAD 15-73994914-G-GGC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.406
- CADD 10.90
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available