C100Y (p.Cys100Tyr) variant of GYS2 (P54840)
C100Y (p.Cys100Tyr) in GYS2 (P54840) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.58 / 1. The record also includes population frequency data and structural context.
C100Y (p.Cys100Tyr) variant details
- p.Cys100Tyr
- rs144077289
- ClinGen CA320440
- ClinVar RCV000196043
- ClinVar RCV002517222
- Uncertain significance
- not provided; Glycogen storage disorder due to hepatic glycogen synthase deficie
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.55
- ESM-1b 0.00
- AlphaMissense 0.74
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.70
- ClinVar: Uncertain significance (not provided; Glycogen storage disorder due to hepatic glycogen)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available