R4* (p.Arg4Ter) variant of PURA (Q00577)
R4* (p.Arg4Ter) 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R4* (p.Arg4Ter) variant details
- p.Arg4Ter
- rs1561792945
- ClinGen CA361488983
- ClinVar RCV000692544
- ClinVar RCV004760716
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.557
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.5e-06)
- Structural context available
- Cited in: PURA-Related Neurodevelopmental Disorders. (PMID 28448108)