T21I (p.Thr21Ile) variant of AGL (Glycogen debranching enzyme)
T21I (p.Thr21Ile) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
T21I (p.Thr21Ile) variant details
- p.Thr21Ile
- gnomAD 1-99851104-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.22
- MetaLR 0.19
- MetaSVM -0.85
- CADD 22.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available