E16V (p.Glu16Val) variant of AGL (Glycogen debranching enzyme)
E16V (p.Glu16Val) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
E16V (p.Glu16Val) variant details
- p.Glu16Val
- gnomAD rs1169609387
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.45
- ESM-1b 0.00
- AlphaMissense 0.65
- MetaLR 0.31
- MetaSVM -0.46
- CADD 24.80
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available