T21A (p.Thr21Ala) variant of AGL (Glycogen debranching enzyme)
T21A (p.Thr21Ala) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
T21A (p.Thr21Ala) variant details
- p.Thr21Ala
- ExAC rs775012924
- gnomAD rs775012924
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.22
- MetaSVM -0.76
- CADD 22.10
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available