L31L (p.Leu31Leu) variant of AGL (Glycogen debranching enzyme)
L31L (p.Leu31Leu) in AGL (Glycogen debranching enzyme) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L31L (p.Leu31Leu) variant details
- p.Leu31Leu
- rs747615978
- gnomAD 1-99861511-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.437
- CADD 10.60
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available