Q19R (p.Gln19Arg) variant of POGZ (Q7Z3K3)
Q19R (p.Gln19Arg) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
Q19R (p.Gln19Arg) variant details
- p.Gln19Arg
- gnomAD rs1389690893
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.26
- ESM-1b 1.00
- AlphaMissense 0.94
- CADD 25.80
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available