Q194H (p.Gln194His) variant of POGZ (Q7Z3K3)
Q194H (p.Gln194His) in POGZ (Q7Z3K3) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
Q194H (p.Gln194His) variant details
- p.Gln194His
- TOPMed rs1218050731
- gnomAD rs1218050731
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.49
- CADD 25.20
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available