P6L (p.Pro6Leu) variant of SMARCA4 (P51532)
P6L (p.Pro6Leu) in SMARCA4 (P51532) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes structural context.
P6L (p.Pro6Leu) variant details
- p.Pro6Leu
- ExAC rs750113056
- gnomAD rs750113056
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available