I7S (p.Ile7Ser) variant of AGL (Glycogen debranching enzyme)
I7S (p.Ile7Ser) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
I7S (p.Ile7Ser) variant details
- p.Ile7Ser
- gnomAD 1-99852680-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.30
- MetaLR 0.09
- MetaSVM -1.04
- CADD 6.13
- Most common in the South Asian population (allele frequency 1.4e-05)
- Structural context available
- Literature evidence available