S30Y (p.Ser30Tyr) variant of PML (Protein PML)
S30Y (p.Ser30Tyr) in PML (Protein PML) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
S30Y (p.Ser30Tyr) variant details
- p.Ser30Tyr
- gnomAD 15-73994901-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.10
- CADD 17.80
- PolyPhen-2 0.56
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available