V32M (p.Val32Met) variant of SMARCB1 (Q12824)
V32M (p.Val32Met) in SMARCB1 (Q12824) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of SMARCB1-related disorder; Hereditary cancer-predisposing syndrome. The record also includes experimental measurements and structural context.
V32M (p.Val32Met) variant details
- p.Val32Met
- cosmic curated COSV10961
- Uncertain significance
- SMARCB1-related disorder; Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (SMARCB1-related disorder; Hereditary cancer-predisposing syndrom)
- UniProt: Uncertain significance
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score 0.0612