G192D (p.Gly192Asp) variant of POGZ (Q7Z3K3)
G192D (p.Gly192Asp) in POGZ (Q7Z3K3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
G192D (p.Gly192Asp) variant details
- p.Gly192Asp
- rs778410657
- NCI-TCGA Cosmic COSV5503
- cosmic curated COSV55038
- ExAC rs778410657
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.29
- ESM-1b 1.00
- AlphaMissense 0.94
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available