T38P (p.Thr38Pro) variant of AGL (Glycogen debranching enzyme)
T38P (p.Thr38Pro) in AGL (Glycogen debranching enzyme) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes structural context.
T38P (p.Thr38Pro) variant details
- p.Thr38Pro
- 1000Genomes rs35278779
- ESP rs35278779
- ExAC rs35278779
- TOPMed rs35278779
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.29
- ESM-1b 0.28
- AlphaMissense 0.35
- MetaLR 0.12
- MetaSVM -0.91
- CADD 24.00
- EBI: Benign (in dbSNP:rs35278779)
- UniProt: Benign (in dbSNP:rs35278779)
- Structural context available