L22P (p.Leu22Pro) variant of AGL (Glycogen debranching enzyme)
L22P (p.Leu22Pro) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
L22P (p.Leu22Pro) variant details
- p.Leu22Pro
- gnomAD 1-99851107-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.80
- ESM-1b 0.91
- AlphaMissense 0.97
- MetaLR 0.64
- MetaSVM 0.44
- CADD 28.20
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available