N93S (p.Asn93Ser) variant of POGZ (Q7Z3K3)
N93S (p.Asn93Ser) 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.
N93S (p.Asn93Ser) variant details
- p.Asn93Ser
- TOPMed rs1293991661
- gnomAD rs1293991661
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 19.70
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available