E9* (p.Glu9Ter) variant of PURA (Q00577)
E9* (p.Glu9Ter) in PURA (Q00577) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
E9* (p.Glu9Ter) variant details
- p.Glu9Ter
- rs2479503553
- ClinGen CA361489058
- ClinVar RCV003112180
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.781
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: PURA-Related Neurodevelopmental Disorders. (PMID 28448108)