Q40E (p.Gln40Glu) variant of AGL (Glycogen debranching enzyme)
Q40E (p.Gln40Glu) in AGL (Glycogen debranching enzyme) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
Q40E (p.Gln40Glu) variant details
- p.Gln40Glu
- ExAC rs771961377
- TOPMed rs771961377
- gnomAD rs771961377
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.27
- MetaLR 0.12
- MetaSVM -0.97
- CADD 39.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available