A56T (p.Ala56Thr) variant of G6PC1 (P35575)
A56T (p.Ala56Thr) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A56T (p.Ala56Thr) variant details
- p.Ala56Thr
- TOPMed rs1181764519
- gnomAD rs1181764519
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.10
- CADD 14.90
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available