F62L (p.Phe62Leu) variant of AGL (Glycogen debranching enzyme)
F62L (p.Phe62Leu) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
F62L (p.Phe62Leu) variant details
- p.Phe62Leu
- rs146234738
- ClinGen CA966080
- ClinVar RCV001349536
- ExAC rs146234738
- Uncertain significance
- Glycogen storage disease type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.96
- MetaLR 0.17
- MetaSVM -0.77
- CADD 16.71
- ClinVar: Uncertain significance (Glycogen storage disease type III)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)