C46F (p.Cys46Phe) variant of G6PC2 (Glucose-6-phosphatase 2)
C46F (p.Cys46Phe) in G6PC2 (Glucose-6-phosphatase 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
C46F (p.Cys46Phe) variant details
- p.Cys46Phe
- rs761436513
- gnomAD 2-168901464-CTT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.562
- CADD 26.80
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available