T152M (p.Thr152Met) variant of POGZ (Q7Z3K3)
T152M (p.Thr152Met) in POGZ (Q7Z3K3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
T152M (p.Thr152Met) variant details
- p.Thr152Met
- rs1200555207
- NCI-TCGA Cosmic COSV5503
- cosmic curated COSV55034
- NCI-TCGA Cosmic COSV5504
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.78
- CADD 23.80
- PolyPhen-2 0.06
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available