Q54R (p.Gln54Arg) variant of G6PC1 (P35575)
Q54R (p.Gln54Arg) in G6PC1 (P35575) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in GSD1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
Q54R (p.Gln54Arg) variant details
- p.Gln54Arg
- TOPMed rs1057517008
- gnomAD rs1057517008
- Pathogenic
- in GSD1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.099
- REVEL 0.08
- CADD 7.25
- PolyPhen-2 0.00
- SIFT 0.72
- EBI: Pathogenic (in GSD1A)
- UniProt: Pathogenic (in GSD1A)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available