N49H (p.Asn49His) variant of AGL (Glycogen debranching enzyme)
N49H (p.Asn49His) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes structural context.
N49H (p.Asn49His) variant details
- p.Asn49His
- cosmic curated COSV10731
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.36
- MetaSVM -0.17
- CADD 25.00
- Structural context available