L25R (p.Leu25Arg) variant of AGL (Glycogen debranching enzyme)
L25R (p.Leu25Arg) 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.
L25R (p.Leu25Arg) variant details
- p.Leu25Arg
- ExAC rs765881303
- TOPMed rs765881303
- gnomAD rs765881303
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.72
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.38
- MetaSVM -0.24
- CADD 24.60
- Most common in the Finnish in Finland (FIN) population (allele frequency 7.5e-05)
- Structural context available