E14A (p.Glu14Ala) variant of AGL (Glycogen debranching enzyme)
E14A (p.Glu14Ala) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E14A (p.Glu14Ala) variant details
- p.Glu14Ala
- gnomAD 1-99851083-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.18
- MetaSVM -0.80
- CADD 22.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available