K61E (p.Lys61Glu) variant of AGL (Glycogen debranching enzyme)
K61E (p.Lys61Glu) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
K61E (p.Lys61Glu) variant details
- p.Lys61Glu
- gnomAD 1-99861601-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.04
- MetaSVM -1.08
- CADD 18.77
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available