G41A (p.Gly41Ala) variant of AGL (Glycogen debranching enzyme)
G41A (p.Gly41Ala) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
G41A (p.Gly41Ala) variant details
- p.Gly41Ala
- gnomAD 1-99861542-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.32
- ESM-1b 1.00
- AlphaMissense 0.58
- MetaLR 0.23
- MetaSVM -0.75
- CADD 24.20
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available