G75R (p.Gly75Arg) variant of POGZ (Q7Z3K3)
G75R (p.Gly75Arg) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
G75R (p.Gly75Arg) variant details
- p.Gly75Arg
- rs758286970
- ClinGen CA1091698
- ClinVar RCV003281326
- ExAC rs758286970
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.43
- CADD 20.60
- PolyPhen-2 0.05
- SIFT 0.26
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-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)