R59I (p.Arg59Ile) variant of AGL (Glycogen debranching enzyme)
R59I (p.Arg59Ile) 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 structural context.
R59I (p.Arg59Ile) variant details
- p.Arg59Ile
- cosmic curated COSV99648
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.65
- ESM-1b 0.00
- AlphaMissense 0.95
- MetaLR 0.43
- MetaSVM -0.05
- CADD 27.50
- Structural context available