L39S (p.Leu39Ser) variant of AGL (Glycogen debranching enzyme)
L39S (p.Leu39Ser) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
L39S (p.Leu39Ser) variant details
- p.Leu39Ser
- gnomAD 1-99861536-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.42
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.23
- MetaSVM -0.70
- CADD 26.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available