V46L (p.Val46Leu) variant of AGL (Glycogen debranching enzyme)
V46L (p.Val46Leu) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
V46L (p.Val46Leu) variant details
- p.Val46Leu
- rs762935611
- ClinGen CA27560501
- ClinVar RCV002962401
- ClinVar RCV004068286
- Uncertain significance
- Glycogen storage disease type III; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.23
- MetaLR 0.03
- MetaSVM -1.05
- CADD 19.95
- ClinVar: Uncertain significance (Glycogen storage disease type III; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American 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)