N39S (p.Asn39Ser) variant of GYS2 (P54840)
N39S (p.Asn39Ser) in GYS2 (P54840) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
N39S (p.Asn39Ser) variant details
- p.Asn39Ser
- rs121918423
- ClinGen CA126173
- ClinVar RCV000017432
- UniProt VAR 007860
- Pathogenic/Likely pathogenic
- Glycogen storage disorder due to hepatic glycogen synthase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.57
- ESM-1b 1.00
- AlphaMissense 0.34
- CADD 25.30
- PolyPhen-2 0.76
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Glycogen storage disorder due to hepatic glycogen synthase defic)
- EBI: Pathogenic (in GSD0)
- UniProt: Pathogenic (in GSD0)
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- 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)