Q101R (p.Gln101Arg) variant of POGZ (Q7Z3K3)
Q101R (p.Gln101Arg) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
Q101R (p.Gln101Arg) variant details
- p.Gln101Arg
- Ensembl rs1286596535
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.20
- CADD 22.70
- PolyPhen-2 0.04
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available