M57T (p.Met57Thr) variant of G6PC2 (Glucose-6-phosphatase 2)
M57T (p.Met57Thr) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
M57T (p.Met57Thr) variant details
- p.Met57Thr
- Ensembl rs2105849456
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.43
- CADD 23.20
- PolyPhen-2 0.10
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available