Q46R (p.Gln46Arg) variant of POGZ (Q7Z3K3)
Q46R (p.Gln46Arg) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
Q46R (p.Gln46Arg) variant details
- p.Gln46Arg
- ExAC rs759630728
- gnomAD rs759630728
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.52
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available