E30* (p.Glu30Ter) variant of WRN (Q14191)
E30* (p.Glu30Ter) in WRN (Q14191) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
E30* (p.Glu30Ter) variant details
- p.Glu30Ter
- rs1198210848
- ClinGen CA370912280
- ClinVar RCV000689923
- gnomAD rs1198210848
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.475
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Werner Syndrome. (PMID 20301687)
- Cited in: Clinical utility gene card for: Werner syndrome. (PMID 22258520)