S73N (p.Ser73Asn) variant of POGZ (Q7Z3K3)
S73N (p.Ser73Asn) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
S73N (p.Ser73Asn) variant details
- p.Ser73Asn
- TOPMed rs369588786
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available