D80G (p.Asp80Gly) variant of POGZ (Q7Z3K3)
D80G (p.Asp80Gly) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
D80G (p.Asp80Gly) variant details
- p.Asp80Gly
- ExAC rs778632246
- gnomAD rs778632246
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.36
- CADD 23.00
- PolyPhen-2 0.30
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available