E58* (p.Glu58Ter) variant of GRIN2A (Q12879)
E58* (p.Glu58Ter) in GRIN2A (Q12879) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
E58* (p.Glu58Ter) variant details
- p.Glu58Ter
- rs143833346
- ClinGen CA7897033
- ClinVar RCV001785243
- ESP rs143833346
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.838
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)