V46M (p.Val46Met) variant of AGL (Glycogen debranching enzyme)
V46M (p.Val46Met) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
V46M (p.Val46Met) variant details
- p.Val46Met
- rs762935611
- ClinGen CA966072
- NCI-TCGA Cosmic COSV5405
- cosmic curated COSV54054
- Uncertain significance
- Glycogen storage disease type III; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.12
- ESM-1b 0.73
- AlphaMissense 0.50
- MetaLR 0.19
- MetaSVM -0.68
- CADD 25.80
- ClinVar: Uncertain significance (Glycogen storage disease type III; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- 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)