E120K (p.Glu120Lys) variant of SMARCE1 (Q969G3)
E120K (p.Glu120Lys) in SMARCE1 (Q969G3) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of not provided. The record also includes structural context.
E120K (p.Glu120Lys) variant details
- p.Glu120Lys
- cosmic curated COSV52861
- Pathogenic
- not provided
- Missense
- ClinVar: Pathogenic (not provided)
- UniProt: Pathogenic
- Structural context available