E24Q (p.Glu24Gln) variant of SMARCB1 (Q12824)
E24Q (p.Glu24Gln) in SMARCB1 (Q12824) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes experimental measurements and structural context.
E24Q (p.Glu24Gln) variant details
- p.Glu24Gln
- NCI-TCGA Cosmic COSV5315
- cosmic curated COSV53155
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.793