I28M (p.Ile28Met) variant of SMARCB1 (Q12824)
I28M (p.Ile28Met) in SMARCB1 (Q12824) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Intellectual disability, autosomal dominant 15. The record also includes experimental measurements and structural context.
I28M (p.Ile28Met) variant details
- p.Ile28Met
- rs2517652847
- ClinGen CA410930991
- ClinVar RCV002288286
- Uncertain significance
- Intellectual disability, autosomal dominant 15
- Missense
- ClinVar: Uncertain significance (Intellectual disability, autosomal dominant 15)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.986