M15V (p.Met15Val) variant of AGL (Glycogen debranching enzyme)
M15V (p.Met15Val) in AGL (Glycogen debranching enzyme) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glycogen storage disease type III. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
M15V (p.Met15Val) variant details
- p.Met15Val
- TOPMed rs1648912301
- Uncertain significance
- Glycogen storage disease type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.18
- MetaLR 0.25
- MetaSVM -0.62
- CADD 20.50
- ClinVar: Uncertain significance (Glycogen storage disease type III)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available