E21K (p.Glu21Lys) variant of GYS2 (P54840)
E21K (p.Glu21Lys) 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 0.20 / 1. The record also includes population frequency data and structural context.
E21K (p.Glu21Lys) variant details
- p.Glu21Lys
- NCI-TCGA Cosmic COSV5392
- TOPMed rs1409001505
- gnomAD rs1409001505
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 18.70
- PolyPhen-2 0.10
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available