I58M (p.Ile58Met) variant of G6PC2 (Glucose-6-phosphatase 2)
I58M (p.Ile58Met) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
I58M (p.Ile58Met) variant details
- p.Ile58Met
- ExAC rs780190171
- gnomAD rs780190171
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.52
- CADD 22.00
- PolyPhen-2 0.98
- SIFT 0.13
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available