T48A (p.Thr48Ala) variant of AGL (Glycogen debranching enzyme)
T48A (p.Thr48Ala) in AGL (Glycogen debranching enzyme) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
T48A (p.Thr48Ala) variant details
- p.Thr48Ala
- NCI-TCGA Cosmic COSV5405
- cosmic curated COSV54052
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.24
- ESM-1b 0.17
- AlphaMissense 0.23
- MetaLR 0.15
- MetaSVM -0.75
- CADD 23.40
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available