T28N (p.Thr28Asn) variant of PML (Protein PML)
T28N (p.Thr28Asn) in PML (Protein PML) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
T28N (p.Thr28Asn) variant details
- p.Thr28Asn
- gnomAD 15-73994895-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0792
- REVEL 0.01
- CADD 3.41
- PolyPhen-2 0.01
- SIFT 0.24
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- Literature evidence available