L65P (p.Leu65Pro) variant of AGL (Glycogen debranching enzyme)
L65P (p.Leu65Pro) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
L65P (p.Leu65Pro) variant details
- p.Leu65Pro
- gnomAD 1-99861614-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.59
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.27
- MetaSVM -0.40
- CADD 26.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available