P34L (p.Pro34Leu) variant of SMARCA4 (P51532)
P34L (p.Pro34Leu) in SMARCA4 (P51532) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Rhabdoid tumor predisposition syndrome. The record also includes structural context.
P34L (p.Pro34Leu) variant details
- p.Pro34Leu
- cosmic curated COSV10524
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Rhabdoid tumor predisposition syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Rhabdoid tumor predispo)
- UniProt: Uncertain significance
- Structural context available