S888T (p.Ser888Thr) variant of RB1 (P06400)
S888T (p.Ser888Thr) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Retinoblastoma. The record also includes structural context.
S888T (p.Ser888Thr) variant details
- p.Ser888Thr
- Ensembl rs1555295354
- Likely pathogenic
- Retinoblastoma
- Missense
- ClinVar: Likely pathogenic (Retinoblastoma)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available