S8Y (p.Ser8Tyr) variant of PML (Protein PML)
S8Y (p.Ser8Tyr) in PML (Protein PML) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S8Y (p.Ser8Tyr) variant details
- p.Ser8Tyr
- 1000Genomes rs542097036
- ExAC rs542097036
- gnomAD rs542097036
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.15
- CADD 22.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the 1KG:GIH population (allele frequency 0.005)
- Structural context available