C100F (p.Cys100Phe) variant of GYS2 (P54840)
C100F (p.Cys100Phe) in GYS2 (P54840) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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.
C100F (p.Cys100Phe) variant details
- p.Cys100Phe
- 1000Genomes rs144077289
- ESP rs144077289
- ExAC rs144077289
- TOPMed rs144077289
- Conflicting interpretations
- not provided; Glycogen storage disorder due to hepatic glycogen synthase deficie
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.57
- ESM-1b 0.00
- AlphaMissense 0.47
- CADD 23.20
- PolyPhen-2 0.88
- SIFT 0.74
- ClinVar: Conflicting classifications of pathogenicity (not provided; Glycogen storage disorder due to hepatic glycogen)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available