L65V (p.Leu65Val) variant of AGL (Glycogen debranching enzyme)
L65V (p.Leu65Val) 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.
L65V (p.Leu65Val) variant details
- p.Leu65Val
- rs772086117
- ClinGen CA966083
- ClinVar RCV000538009
- ExAC rs772086117
- Uncertain significance
- Glycogen storage disease type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.18
- MetaSVM -0.76
- CADD 15.19
- ClinVar: Uncertain significance (Glycogen storage disease type III)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 3.3e-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)