V44G (p.Val44Gly) variant of AGL (Glycogen debranching enzyme)
V44G (p.Val44Gly) in AGL (Glycogen debranching enzyme) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of AGL-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
V44G (p.Val44Gly) variant details
- p.Val44Gly
- ExAC rs765493514
- TOPMed rs765493514
- gnomAD rs765493514
- Uncertain significance
- AGL-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.48
- ESM-1b 1.00
- AlphaMissense 0.75
- MetaLR 0.17
- MetaSVM -0.83
- CADD 28.70
- ClinVar: Uncertain significance (AGL-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available