P479Q (p.Pro479Gln) variant of GYS2 (P54840)
P479Q (p.Pro479Gln) in GYS2 (P54840) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of GYS2-related disorders; not provided; Glycogen storage disorder due to hepatic g. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
P479Q (p.Pro479Gln) variant details
- p.Pro479Gln
- rs121918420
- ClinGen CA126170
- ClinVar RCV000017429
- ClinVar RCV001582484
- Pathogenic/Likely pathogenic
- GYS2-related disorders; not provided; Glycogen storage disorder due to hepatic g
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 26.70
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (GYS2-related disorders; not provided; Glycogen storage disorder)
- EBI: Pathogenic (in GSD0)
- UniProt: Pathogenic (in GSD0)
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- 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)