Q48Q (p.Gln48Gln) variant of G6PC2 (Glucose-6-phosphatase 2)
Q48Q (p.Gln48Gln) in G6PC2 (Glucose-6-phosphatase 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
Q48Q (p.Gln48Gln) variant details
- p.Gln48Gln
- rs755938672
- gnomAD 2-168901475-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.518
- CADD 6.85
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available