L8V (p.Leu8Val) variant of SMARCA4 (P51532)
L8V (p.Leu8Val) 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.
L8V (p.Leu8Val) variant details
- p.Leu8Val
- Ensembl rs1555750596
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available