R34P (p.Arg34Pro) variant of AGL (Glycogen debranching enzyme)
R34P (p.Arg34Pro) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
R34P (p.Arg34Pro) variant details
- p.Arg34Pro
- ExAC rs746265668
- TOPMed rs746265668
- gnomAD rs746265668
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.48
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.16
- MetaSVM -0.86
- CADD 27.10
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available