R24G (p.Arg24Gly) variant of AGL (Glycogen debranching enzyme)
R24G (p.Arg24Gly) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R24G (p.Arg24Gly) variant details
- p.Arg24Gly
- gnomAD 1-99851112-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.42
- MetaSVM -0.12
- CADD 23.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available