T48R (p.Thr48Arg) variant of AGL (Glycogen debranching enzyme)
T48R (p.Thr48Arg) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
T48R (p.Thr48Arg) variant details
- p.Thr48Arg
- gnomAD 1-99861563-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.39
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.25
- MetaSVM -0.51
- CADD 24.60
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available