R213G (p.Arg213Gly) variant of POGZ (Q7Z3K3)
R213G (p.Arg213Gly) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
R213G (p.Arg213Gly) variant details
- p.Arg213Gly
- gnomAD rs1179579270
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.52
- ESM-1b 0.13
- AlphaMissense 0.77
- CADD 26.90
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available