K20N (p.Lys20Asn) variant of AGL (Glycogen debranching enzyme)
K20N (p.Lys20Asn) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
K20N (p.Lys20Asn) variant details
- p.Lys20Asn
- rs769238334
- ClinGen CA966000
- ClinVar RCV001068317
- ExAC rs769238334
- Uncertain significance
- Glycogen storage disease type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.34
- MetaLR 0.20
- MetaSVM -0.84
- CADD 20.40
- ClinVar: Uncertain significance (Glycogen storage disease type III)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)