E82K (p.Glu82Lys) variant of GYS2 (P54840)
E82K (p.Glu82Lys) in GYS2 (P54840) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes structural context.
E82K (p.Glu82Lys) variant details
- p.Glu82Lys
- NCI-TCGA Cosmic COSV5392
- TOPMed rs1944495595
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- ESM-1b 1.00
- AlphaMissense 0.17
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available