E55V (p.Glu55Val) variant of AGL (Glycogen debranching enzyme)
E55V (p.Glu55Val) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
E55V (p.Glu55Val) variant details
- p.Glu55Val
- gnomAD 1-99861584-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.07
- MetaSVM -1.04
- CADD 23.10
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available