A52T (p.Ala52Thr) variant of GYS2 (P54840)
A52T (p.Ala52Thr) in GYS2 (P54840) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.75 / 1. The record also includes population frequency data and structural context.
A52T (p.Ala52Thr) variant details
- p.Ala52Thr
- rs886049162
- ClinGen CA10640673
- ClinVar RCV000352357
- TOPMed rs886049162
- Uncertain significance
- Glycogen storage disorder due to hepatic glycogen synthase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.43
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Glycogen storage disorder due to hepatic glycogen synthase defic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available