N97S (p.Asn97Ser) variant of POGZ (Q7Z3K3)
N97S (p.Asn97Ser) in POGZ (Q7Z3K3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
N97S (p.Asn97Ser) variant details
- p.Asn97Ser
- rs2529544037
- ClinGen CA341982782
- ClinVar RCV003408873
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 18.00
- PolyPhen-2 0.04
- SIFT 0.67
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available