E19K (p.Glu19Lys) variant of AGL (Glycogen debranching enzyme)
E19K (p.Glu19Lys) in AGL (Glycogen debranching enzyme) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
E19K (p.Glu19Lys) variant details
- p.Glu19Lys
- rs1418531169
- gnomAD 1-99851095-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.617
- CADD 23.80
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available