N94S (p.Asn94Ser) variant of POGZ (Q7Z3K3)
N94S (p.Asn94Ser) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
N94S (p.Asn94Ser) variant details
- p.Asn94Ser
- TOPMed rs1660429168
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.92
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available