S4N (p.Ser4Asn) variant of AGL (Glycogen debranching enzyme)
S4N (p.Ser4Asn) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S4N (p.Ser4Asn) variant details
- p.Ser4Asn
- rs1257997077
- ClinGen CA341323405
- ClinVar RCV001246859
- TOPMed rs1257997077
- Uncertain significance
- Glycogen storage disease type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.20
- MetaSVM -0.81
- CADD 19.51
- ClinVar: Uncertain significance (Glycogen storage disease type III)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00052)
- 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)