L10I (p.Leu10Ile) variant of AGL (Glycogen debranching enzyme)
L10I (p.Leu10Ile) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L10I (p.Leu10Ile) variant details
- p.Leu10Ile
- gnomAD 1-99852694-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.11
- MetaSVM -0.96
- CADD 4.32
- Most common in the Non-Finnish European population (allele frequency 2.9e-06)
- Structural context available
- Literature evidence available