G28V (p.Gly28Val) variant of AGL (Glycogen debranching enzyme)
G28V (p.Gly28Val) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
G28V (p.Gly28Val) variant details
- p.Gly28Val
- gnomAD 1-99861503-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.68
- MetaLR 0.67
- MetaSVM 0.46
- CADD 28.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available