A339P (p.Ala339Pro) variant of GYS2 (P54840)
A339P (p.Ala339Pro) in GYS2 (P54840) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Glycogen storage disorder due to hepatic glycogen synthase deficie. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
A339P (p.Ala339Pro) variant details
- p.Ala339Pro
- rs121918421
- ClinGen CA126171
- ClinVar RCV000017430
- ClinVar RCV001092386
- Pathogenic/Likely pathogenic
- not provided; Glycogen storage disorder due to hepatic glycogen synthase deficie
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.95
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.05
- ClinVar: Pathogenic/Likely pathogenic (not provided; Glycogen storage disorder due to hepatic glycogen)
- EBI: Pathogenic (in GSD0)
- UniProt: Pathogenic (in GSD0)
- Most common in the South Asian population (allele frequency 0.00021)
- 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)