Y47* (p.Tyr47Ter) variant of SMARCB1 (Q12824)
Y47* (p.Tyr47Ter) in SMARCB1 (Q12824) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes experimental measurements and structural context.
Y47* (p.Tyr47Ter) variant details
- p.Tyr47Ter
- rs1601388576
- Ensembl rs1601388576
- ClinGen CA410932660
- cosmic curated COSV54093
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.401