T152R (p.Thr152Arg) variant of POGZ (Q7Z3K3)
T152R (p.Thr152Arg) in POGZ (Q7Z3K3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
T152R (p.Thr152Arg) variant details
- p.Thr152Arg
- NCI-TCGA Cosmic COSV5503
- NCI-TCGA Cosmic COSV5504
- cosmic curated COSV55040
- TOPMed rs1200555207
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.30
- ESM-1b 0.37
- AlphaMissense 0.96
- CADD 26.10
- PolyPhen-2 0.67
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available