T28P (p.Thr28Pro) variant of PML (Protein PML)
T28P (p.Thr28Pro) in PML (Protein PML) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
T28P (p.Thr28Pro) variant details
- p.Thr28Pro
- rs28504405
- ClinGen CA7652301
- ClinVar RCV000957320
- 1000Genomes rs28504405
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0468
- REVEL 0.04
- CADD 0.29
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:YORUBA population (allele frequency 0.05)
- Structural context available