L22R (p.Leu22Arg) variant of AGL (Glycogen debranching enzyme)
L22R (p.Leu22Arg) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
L22R (p.Leu22Arg) variant details
- p.Leu22Arg
- TOPMed rs1213647501
- gnomAD rs1213647501
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.79
- ESM-1b 0.00
- AlphaMissense 0.94
- MetaLR 0.64
- MetaSVM 0.44
- CADD 27.60
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available