E26N (p.Glu26Asn) variant of AGL (Glycogen debranching enzyme)
E26N (p.Glu26Asn) in AGL (Glycogen debranching enzyme) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E26N (p.Glu26Asn) variant details
- p.Glu26Asn
- gnomAD 1-99851117-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 33.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available