A16R (p.Ala16Arg) variant of PML (Protein PML)
A16R (p.Ala16Arg) in PML (Protein PML) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A16R (p.Ala16Arg) variant details
- p.Ala16Arg
- rs2141690677
- gnomAD 15-73994853-A-AC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.309
- CADD 18.80
- Population evidence available
- Structural context available
- Literature evidence available