S4C (p.Ser4Cys) variant of AGL (Glycogen debranching enzyme)
S4C (p.Ser4Cys) 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.
S4C (p.Ser4Cys) variant details
- p.Ser4Cys
- gnomAD 1-99851052-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.19
- MetaSVM -0.80
- CADD 18.85
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available