L25P (p.Leu25Pro) variant of AGL (Glycogen debranching enzyme)
L25P (p.Leu25Pro) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
L25P (p.Leu25Pro) variant details
- p.Leu25Pro
- ExAC rs765881303
- TOPMed rs765881303
- gnomAD rs765881303
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.53
- MetaSVM 0.17
- CADD 27.40
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available