Y732F (p.Tyr732Phe) variant of SMARCA4 (P51532)
Y732F (p.Tyr732Phe) in SMARCA4 (P51532) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Rhabdoid tumor predisposition syndrome 2. The record also includes structural context.
Y732F (p.Tyr732Phe) variant details
- p.Tyr732Phe
- Ensembl rs2146236314
- Likely pathogenic
- Rhabdoid tumor predisposition syndrome 2
- Missense
- ClinVar: Likely pathogenic (Rhabdoid tumor predisposition syndrome 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available