P51S (p.Pro51Ser) variant of AGL (Glycogen debranching enzyme)
P51S (p.Pro51Ser) 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
P51S (p.Pro51Ser) variant details
- p.Pro51Ser
- rs367591347
- ClinGen CA966074
- ClinVar RCV001370753
- ESP rs367591347
- Uncertain significance
- Glycogen storage disease type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.56
- ESM-1b 0.00
- AlphaMissense 0.43
- MetaLR 0.35
- MetaSVM -0.29
- CADD 24.90
- ClinVar: Uncertain significance (Glycogen storage disease type III)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Glycogen Storage Disease Type III. (PMID 20301788)
- Cited in: Glycogen storage disease type III diagnosis and management guidelines. (PMID 20631546)