T22N (p.Thr22Asn) variant of PML (Protein PML)
T22N (p.Thr22Asn) in PML (Protein PML) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
T22N (p.Thr22Asn) variant details
- p.Thr22Asn
- gnomAD 15-73994877-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.06
- CADD 18.70
- PolyPhen-2 0.36
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available