T45N (p.Thr45Asn) variant of AGL (Glycogen debranching enzyme)
T45N (p.Thr45Asn) in AGL (Glycogen debranching enzyme) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
T45N (p.Thr45Asn) variant details
- p.Thr45Asn
- gnomAD 1-99861552-T-TA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.32
- CADD 26.40
- Population evidence available
- Structural context available
- Literature evidence available