Q32R (p.Gln32Arg) variant of AGL (Glycogen debranching enzyme)
Q32R (p.Gln32Arg) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
Q32R (p.Gln32Arg) variant details
- p.Gln32Arg
- gnomAD 1-99861515-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.32
- MetaLR 0.03
- MetaSVM -1.07
- CADD 20.20
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available