S8F (p.Ser8Phe) variant of PML (Protein PML)
S8F (p.Ser8Phe) 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.
S8F (p.Ser8Phe) variant details
- p.Ser8Phe
- 1000Genomes rs542097036
- ExAC rs542097036
- gnomAD rs542097036
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.14
- CADD 23.00
- PolyPhen-2 0.98
- SIFT 0.02
- Population evidence available
- Structural context available