T38N (p.Thr38Asn) variant of AGL (Glycogen debranching enzyme)
T38N (p.Thr38Asn) 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 0.20 / 1. The record also includes structural context.
T38N (p.Thr38Asn) variant details
- p.Thr38Asn
- Ensembl rs1557746521
- Uncertain significance
- Glycogen storage disease type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.24
- MetaLR 0.07
- MetaSVM -1.02
- CADD 22.80
- ClinVar: Uncertain significance (Glycogen storage disease type III)
- EBI: Variant of uncertain significance (in dbSNP:rs35278779)
- UniProt: Uncertain significance (in dbSNP:rs35278779)
- Structural context available