T52A (p.Thr52Ala) variant of G6PC2 (Glucose-6-phosphatase 2)
T52A (p.Thr52Ala) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
T52A (p.Thr52Ala) variant details
- p.Thr52Ala
- gnomAD 2-168901485-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.17
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available