T38A (p.Thr38Ala) variant of AGL (Glycogen debranching enzyme)
T38A (p.Thr38Ala) in AGL (Glycogen debranching enzyme) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided; Glycogen storage disease type III. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
T38A (p.Thr38Ala) variant details
- p.Thr38Ala
- rs35278779
- ClinGen CA966066
- ClinVar RCV000241781
- ClinVar RCV000675317
- Benign/Likely benign
- not specified; not provided; Glycogen storage disease type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.06
- MetaSVM -1.07
- CADD 23.10
- ClinVar: Benign/Likely benign (not specified; not provided; Glycogen storage disease type III)
- EBI: Benign (in dbSNP:rs35278779)
- UniProt: Benign (in dbSNP:rs35278779)
- Most common in the 1KG:ASW population (allele frequency 0.088)
- 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)