G215R (p.Gly215Arg) variant of POGZ (Q7Z3K3)
G215R (p.Gly215Arg) in POGZ (Q7Z3K3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
G215R (p.Gly215Arg) variant details
- p.Gly215Arg
- TOPMed rs1658118101
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.45
- ESM-1b 0.00
- AlphaMissense 0.83
- CADD 25.30
- PolyPhen-2 0.97
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available