P18A (p.Pro18Ala) variant of SMARCA4 (P51532)
P18A (p.Pro18Ala) 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.
P18A (p.Pro18Ala) variant details
- p.Pro18Ala
- gnomAD rs2085806713
- 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