L31P (p.Leu31Pro) variant of AGL (Glycogen debranching enzyme)
L31P (p.Leu31Pro) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
L31P (p.Leu31Pro) variant details
- p.Leu31Pro
- gnomAD rs1650032026
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.33
- MetaSVM -0.26
- CADD 24.90
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available