Q40P (p.Gln40Pro) variant of AGL (Glycogen debranching enzyme)
Q40P (p.Gln40Pro) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
Q40P (p.Gln40Pro) variant details
- p.Gln40Pro
- gnomAD rs1364402397
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.48
- ESM-1b 0.32
- AlphaMissense 0.73
- MetaLR 0.16
- MetaSVM -0.85
- CADD 25.10
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available