S60F (p.Ser60Phe) variant of POGZ (Q7Z3K3)
S60F (p.Ser60Phe) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
S60F (p.Ser60Phe) variant details
- p.Ser60Phe
- gnomAD rs1215783210
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.59
- ESM-1b 0.69
- AlphaMissense 0.23
- CADD 24.60
- PolyPhen-2 0.27
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available