E1705D (p.Glu1705Asp) variant of DICER1 (Endoribonuclease Dicer)
E1705D (p.Glu1705Asp) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as tier ii - potential in the context of Neuroblastoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
E1705D (p.Glu1705Asp) variant details
- p.Glu1705Asp
- rs1890100882
- ClinGen CA390865415
- cosmic curated COSV58622
- ClinVar RCV001200973
- Tier II - Potential
- Neuroblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 0.84
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.98
- ClinVar: Tier II - Potential (Neuroblastoma)
- EBI: Pathogenic (in PPB)
- UniProt: Pathogenic (in PPB)
- Structural context available
- Cited in: DICER1-Related Tumor Predisposition. (PMID 24761742)