R161Q (p.Arg161Gln) variant of POGZ (Q7Z3K3)
R161Q (p.Arg161Gln) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R161Q (p.Arg161Gln) variant details
- p.Arg161Gln
- ExAC rs767143110
- gnomAD rs767143110
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.35
- CADD 21.70
- PolyPhen-2 0.07
- SIFT 0.51
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available