S17* (p.Ser17Ter) variant of PURA (Q00577)
S17* (p.Ser17Ter) in PURA (Q00577) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
S17* (p.Ser17Ter) variant details
- p.Ser17Ter
- rs1346561117
- ClinGen CA361489106
- ClinVar RCV002052108
- gnomAD rs1346561117
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.771
- CADD 33.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: PURA-Related Neurodevelopmental Disorders. (PMID 28448108)