E1813S (p.Glu1813Ser) variant of DICER1 (Endoribonuclease Dicer)
E1813S (p.Glu1813Ser) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of DICER1-related tumor predisposition. The record also includes structural context.
E1813S (p.Glu1813Ser) variant details
- p.Glu1813Ser
- cosmic curated COSV58618
- Pathogenic
- DICER1-related tumor predisposition
- Missense
- ClinVar: Pathogenic (DICER1-related tumor predisposition)
- UniProt: Pathogenic (in PPB)
- Structural context available