D23G (p.Asp23Gly) variant of POGZ (Q7Z3K3)
D23G (p.Asp23Gly) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
D23G (p.Asp23Gly) variant details
- p.Asp23Gly
- ExAC rs762775121
- gnomAD rs762775121
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.33
- ESM-1b 1.00
- AlphaMissense 0.54
- CADD 27.60
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available