A43S (p.Ala43Ser) variant of AGL (Glycogen debranching enzyme)
A43S (p.Ala43Ser) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A43S (p.Ala43Ser) variant details
- p.Ala43Ser
- gnomAD 1-99852673-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.09
- MetaSVM -0.94
- CADD 0.79
- Population evidence available
- Structural context available
- Literature evidence available