E21Q (p.Glu21Gln) variant of GYS2 (P54840)
E21Q (p.Glu21Gln) 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 0.19 / 1. The record also includes population frequency data and structural context.
E21Q (p.Glu21Gln) variant details
- p.Glu21Gln
- rs1409001505
- NCI-TCGA Cosmic COSV5392
- TOPMed rs1409001505
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 16.60
- PolyPhen-2 0.01
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available