Q40H (p.Gln40His) variant of AGL (Glycogen debranching enzyme)
Q40H (p.Gln40His) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
Q40H (p.Gln40His) variant details
- p.Gln40His
- gnomAD 1-99861540-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.71
- MetaLR 0.12
- MetaSVM -0.98
- CADD 16.96
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available