A2E (p.Ala2Glu) variant of POGZ (Q7Z3K3)
A2E (p.Ala2Glu) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- ExAC rs748853515
- gnomAD rs748853515
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.24
- ESM-1b 0.12
- AlphaMissense 0.37
- CADD 24.10
- PolyPhen-2 0.98
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available