P37Q (p.Pro37Gln) variant of AGL (Glycogen debranching enzyme)
P37Q (p.Pro37Gln) in AGL (Glycogen debranching enzyme) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
P37Q (p.Pro37Gln) variant details
- p.Pro37Gln
- gnomAD 1-99852673-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.0832
- CADD 0.50
- Most common in the South Asian population (allele frequency 1.4e-05)
- Structural context available
- Literature evidence available