F57L (p.Phe57Leu) variant of AGL (Glycogen debranching enzyme)
F57L (p.Phe57Leu) in AGL (Glycogen debranching enzyme) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glycogen storage disease type III. 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.
F57L (p.Phe57Leu) variant details
- p.Phe57Leu
- rs756476562
- ClinGen CA966077
- ClinVar RCV001964324
- ExAC rs756476562
- Uncertain significance
- Glycogen storage disease type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.58
- ESM-1b 0.00
- AlphaMissense 0.96
- MetaLR 0.39
- MetaSVM -0.12
- CADD 25.50
- ClinVar: Uncertain significance (Glycogen storage disease type III)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available
- Cited in: Glycogen Storage Disease Type III. (PMID 20301788)
- Cited in: Glycogen storage disease type III diagnosis and management guidelines. (PMID 20631546)