D1709E (p.Asp1709Glu) variant of DICER1 (Endoribonuclease Dicer)
D1709E (p.Asp1709Glu) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of DICER1-related tumor predisposition. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
D1709E (p.Asp1709Glu) variant details
- p.Asp1709Glu
- rs1890098663
- ClinGen CA390865390
- cosmic curated COSV58619
- ClinVar RCV001201027
- Pathogenic
- DICER1-related tumor predisposition
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 0.83
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic (DICER1-related tumor predisposition)
- EBI: Pathogenic (in non-epithelial ovarian tumor)
- UniProt: Pathogenic (in non-epithelial ovarian tumor)
- Structural context available
- Cited in: Recurrent somatic DICER1 mutations in nonepithelial ovarian cancers. (PMID 22187960)
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)