R34Q (p.Arg34Gln) variant of AGL (Glycogen debranching enzyme)
R34Q (p.Arg34Gln) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R34Q (p.Arg34Gln) variant details
- p.Arg34Gln
- rs746265668
- gnomAD 1-99861521-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.35
- ESM-1b 0.12
- AlphaMissense 0.26
- MetaLR 0.16
- MetaSVM -0.86
- CADD 27.10
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available