T38I (p.Thr38Ile) variant of AGL (Glycogen debranching enzyme)
T38I (p.Thr38Ile) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
T38I (p.Thr38Ile) variant details
- p.Thr38Ile
- gnomAD 1-99861533-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.17
- ESM-1b 0.33
- AlphaMissense 0.64
- MetaLR 0.14
- MetaSVM -0.86
- CADD 24.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available