Y58* (p.Tyr58Ter) variant of SETD5 (Q9C0A6)
Y58* (p.Tyr58Ter) in SETD5 (Q9C0A6) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Y58* (p.Tyr58Ter) variant details
- p.Tyr58Ter
- rs2040265772
- ClinGen CA351681741
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10020
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available