G2E (p.Gly2Glu) variant of AGL (Glycogen debranching enzyme)
G2E (p.Gly2Glu) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
G2E (p.Gly2Glu) variant details
- p.Gly2Glu
- cosmic curated COSV10731
- ExAC rs778848880
- gnomAD rs778848880
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.07
- MetaSVM -1.07
- CADD 9.16
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available