T55A (p.Thr55Ala) variant of G6PC2 (Glucose-6-phosphatase 2)
T55A (p.Thr55Ala) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
T55A (p.Thr55Ala) variant details
- p.Thr55Ala
- Ensembl rs1690591994
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.43
- CADD 23.70
- PolyPhen-2 0.76
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available