P48S (p.Pro48Ser) variant of SMARCB1 (Q12824)
P48S (p.Pro48Ser) in SMARCB1 (Q12824) 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 experimental measurements, published literature, and structural context.
P48S (p.Pro48Ser) variant details
- p.Pro48Ser
- rs2517660395
- ClinGen CA410932669
- ClinVar RCV002392027
- cosmic curated COSV54098
- 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
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.649
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)