S30T (p.Ser30Thr) variant of PML (Protein PML)
S30T (p.Ser30Thr) in PML (Protein PML) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
S30T (p.Ser30Thr) variant details
- p.Ser30Thr
- Ensembl rs1369762288
- Missense
- Variant Prioritization Score for Impact Estimate 0.0415
- REVEL 0.00
- CADD 5.43
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the 1KG:IBS population (allele frequency 0.038)
- Structural context available