E16K (p.Glu16Lys) variant of AGL (Glycogen debranching enzyme)
E16K (p.Glu16Lys) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
E16K (p.Glu16Lys) variant details
- p.Glu16Lys
- gnomAD 1-99851088-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.63
- MetaLR 0.25
- MetaSVM -0.69
- CADD 25.10
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available