D32Y (p.Asp32Tyr) variant of POGZ (Q7Z3K3)
D32Y (p.Asp32Tyr) in POGZ (Q7Z3K3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
D32Y (p.Asp32Tyr) variant details
- p.Asp32Tyr
- rs1265917610
- TOPMed rs1265917610
- gnomAD rs1265917610
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.31
- ESM-1b 0.44
- AlphaMissense 0.88
- CADD 26.90
- PolyPhen-2 0.86
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available