T38S (p.Thr38Ser) variant of AGL (Glycogen debranching enzyme)
T38S (p.Thr38Ser) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
T38S (p.Thr38Ser) variant details
- p.Thr38Ser
- rs35278779
- ClinGen CA341329061
- ClinVar RCV003518436
- 1000Genomes rs35278779
- Uncertain significance
- Glycogen storage disease type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.01
- MetaSVM -1.03
- CADD 19.35
- ClinVar: Uncertain significance (Glycogen storage disease type III)
- EBI: Benign (in dbSNP:rs35278779)
- UniProt: Benign (in dbSNP:rs35278779)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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)