R34L (p.Arg34Leu) variant of AGL (Glycogen debranching enzyme)
R34L (p.Arg34Leu) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R34L (p.Arg34Leu) variant details
- p.Arg34Leu
- rs746265668
- gnomAD 1-99861521-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.38
- ESM-1b 1.00
- AlphaMissense 0.67
- MetaLR 0.16
- MetaSVM -0.86
- CADD 27.10
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available