K97E (p.Lys97Glu) variant of GYS2 (P54840)
K97E (p.Lys97Glu) 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 0.24 / 1. The record also includes structural context.
K97E (p.Lys97Glu) variant details
- p.Lys97Glu
- rs886049161
- ClinGen CA10632436
- ClinVar RCV000386889
- Ensembl rs886049161
- Uncertain significance
- Glycogen storage disorder due to hepatic glycogen synthase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.10
- MetaSVM -0.99
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Glycogen storage disorder due to hepatic glycogen synthase defic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available