S26* (p.Ser26Ter) variant of PURA (Q00577)
S26* (p.Ser26Ter) 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 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
S26* (p.Ser26Ter) variant details
- p.Ser26Ter
- rs1763036339
- ClinGen CA361489218
- ClinVar RCV001222865
- Ensembl rs1763036339
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.606
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: PURA-Related Neurodevelopmental Disorders. (PMID 28448108)