S4G (p.Ser4Gly) variant of AGL (Glycogen debranching enzyme)
S4G (p.Ser4Gly) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
S4G (p.Ser4Gly) variant details
- p.Ser4Gly
- gnomAD 1-99851052-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.09
- MetaSVM -1.06
- CADD 17.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available