E28* (p.Glu28Ter) variant of GRIN2A (Q12879)
E28* (p.Glu28Ter) in GRIN2A (Q12879) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes structural context.
E28* (p.Glu28Ter) variant details
- p.Glu28Ter
- rs1057050893
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10041
- TOPMed rs1057050893
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.314
- AlphaMissense 0.14
- MetaLR 0.04
- MetaSVM -1.14
- PolyPhen-2 0.68
- SIFT 0.12
- MutPred 0.36
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available