L39I (p.Leu39Ile) variant of AGL (Glycogen debranching enzyme)
L39I (p.Leu39Ile) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
L39I (p.Leu39Ile) variant details
- p.Leu39Ile
- TOPMed rs902018012
- gnomAD rs902018012
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.23
- ESM-1b 1.00
- AlphaMissense 0.33
- MetaLR 0.21
- MetaSVM -0.65
- CADD 22.80
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available