P25T (p.Pro25Thr) variant of PML (Protein PML)
P25T (p.Pro25Thr) in PML (Protein PML) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
P25T (p.Pro25Thr) variant details
- p.Pro25Thr
- Ensembl rs376726233
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.05
- CADD 15.70
- PolyPhen-2 0.19
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available