N13S (p.Asn13Ser) variant of AGL (Glycogen debranching enzyme)
N13S (p.Asn13Ser) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes structural context.
N13S (p.Asn13Ser) variant details
- p.Asn13Ser
- ExAC rs769898930
- gnomAD rs769898930
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.19
- MetaSVM -0.80
- CADD 22.80
- Structural context available