L31R (p.Leu31Arg) variant of AGL (Glycogen debranching enzyme)
L31R (p.Leu31Arg) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
L31R (p.Leu31Arg) variant details
- p.Leu31Arg
- gnomAD 1-99861512-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.33
- MetaSVM -0.26
- CADD 24.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available