S7C (p.Ser7Cys) variant of SMARCB1 (Q12824)
S7C (p.Ser7Cys) 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 and structural context.
S7C (p.Ser7Cys) variant details
- p.Ser7Cys
- Ensembl rs2145951949
- 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 -1.12