N93D (p.Asn93Asp) variant of POGZ (Q7Z3K3)
N93D (p.Asn93Asp) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
N93D (p.Asn93Asp) variant details
- p.Asn93Asp
- TOPMed rs1369992245
- gnomAD rs1369992245
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.19
- ESM-1b 0.46
- AlphaMissense 0.21
- CADD 22.20
- PolyPhen-2 0.03
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available