I38T (p.Ile38Thr) variant of G6PC2 (Glucose-6-phosphatase 2)
I38T (p.Ile38Thr) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
I38T (p.Ile38Thr) variant details
- p.Ile38Thr
- Ensembl rs1249599611
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.15
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available