Y74* (p.Tyr74Ter) variant of LAMP2 (P13473)
Y74* (p.Tyr74Ter) in LAMP2 (P13473) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Y74* (p.Tyr74Ter) variant details
- p.Tyr74Ter
- Ensembl rs2147286913
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available