Q6H (p.Gln6His) variant of AGL (Glycogen debranching enzyme)
Q6H (p.Gln6His) in AGL (Glycogen debranching enzyme) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
Q6H (p.Gln6His) variant details
- p.Gln6His
- NCI-TCGA Cosmic COSV5405
- cosmic curated COSV54050
- gnomAD rs1469251200
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.50
- MetaLR 0.38
- MetaSVM -0.18
- CADD 23.80
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available