F23Y (p.Phe23Tyr) variant of AGL (Glycogen debranching enzyme)
F23Y (p.Phe23Tyr) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
F23Y (p.Phe23Tyr) variant details
- p.Phe23Tyr
- rs1342547734
- ClinGen CA341323821
- ClinVar RCV001950039
- gnomAD rs1342547734
- Uncertain significance
- Glycogen storage disease type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.26
- MetaLR 0.10
- MetaSVM -0.96
- CADD 19.77
- 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)