D80N (p.Asp80Asn) variant of POGZ (Q7Z3K3)
D80N (p.Asp80Asn) in POGZ (Q7Z3K3) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
D80N (p.Asp80Asn) variant details
- p.Asp80Asn
- TOPMed rs1048391852
- gnomAD rs1048391852
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.19
- CADD 23.00
- PolyPhen-2 0.61
- SIFT 0.36
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available