L10F (p.Leu10Phe) variant of AGL (Glycogen debranching enzyme)
L10F (p.Leu10Phe) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L10F (p.Leu10Phe) variant details
- p.Leu10Phe
- rs746137555
- ClinGen CA27550768
- ClinVar RCV000529938
- ExAC rs746137555
- Uncertain significance
- Glycogen storage disease type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.31
- MetaSVM -0.42
- CADD 20.30
- ClinVar: Uncertain significance (Glycogen storage disease type III)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 7.2e-05)
- 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)