R37G (p.Arg37Gly) variant of SMARCB1 (Q12824)
R37G (p.Arg37Gly) in SMARCB1 (Q12824) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CSS3. The record also includes experimental measurements and structural context.
R37G (p.Arg37Gly) variant details
- p.Arg37Gly
- Ensembl rs2145959935
- Pathogenic
- in CSS3
- Missense
- EBI: Pathogenic (in CSS3)
- UniProt: Pathogenic (in CSS3)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score 0.099