H3R (p.His3Arg) variant of AGL (Glycogen debranching enzyme)
H3R (p.His3Arg) 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 population frequency data, published literature, and structural context.
H3R (p.His3Arg) variant details
- p.His3Arg
- rs752437446
- ClinGen CA965993
- ClinVar RCV001931528
- ExAC rs752437446
- Uncertain significance
- Glycogen storage disease type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.08
- MetaSVM -1.06
- CADD 14.49
- 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 6.5e-05)
- 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)