G192S (p.Gly192Ser) variant of POGZ (Q7Z3K3)
G192S (p.Gly192Ser) in POGZ (Q7Z3K3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
G192S (p.Gly192Ser) variant details
- p.Gly192Ser
- rs749317465
- ClinGen CA1091603
- ClinVar RCV002792747
- ExAC rs749317465
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.27
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)