A56A (p.Ala56Ala) variant of G6PC1 (P35575)
A56A (p.Ala56Ala) in G6PC1 (P35575) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A56A (p.Ala56Ala) variant details
- p.Ala56Ala
- rs1347610465
- gnomAD 17-42901044-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.16
- CADD 11.20
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available