T52T (p.Thr52Thr) variant of G6PC2 (Glucose-6-phosphatase 2)
T52T (p.Thr52Thr) in G6PC2 (Glucose-6-phosphatase 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
T52T (p.Thr52Thr) variant details
- p.Thr52Thr
- rs1043751558
- gnomAD 2-168901487-A-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.147
- CADD 9.37
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available