S483P (p.Ser483Pro) variant of GYS2 (P54840)
S483P (p.Ser483Pro) in GYS2 (P54840) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Glycogen storage disorder due to hepatic glycogen synthase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
S483P (p.Ser483Pro) variant details
- p.Ser483Pro
- rs121918424
- ClinGen CA126174
- ClinVar RCV000017433
- UniProt VAR 007864
- Pathogenic
- Glycogen storage disorder due to hepatic glycogen synthase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 27.10
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic (Glycogen storage disorder due to hepatic glycogen synthase defic)
- EBI: Pathogenic (in GSD0)
- UniProt: Pathogenic (in GSD0)
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Cited in: Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. (PMID 9691087)