S28* (p.Ser28Ter) variant of PURA (Q00577)
S28* (p.Ser28Ter) 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 0.75 / 1. The record also includes population frequency data and structural context.
S28* (p.Ser28Ter) variant details
- p.Ser28Ter
- rs2479503963
- ClinGen CA361489248
- ClinVar RCV003325344
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.755
- CADD 34.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available