E1705Q (p.Glu1705Gln) variant of DICER1 (Endoribonuclease Dicer)
E1705Q (p.Glu1705Gln) 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 0.96 / 1. The record also includes published literature and structural context.
E1705Q (p.Glu1705Gln) variant details
- p.Glu1705Gln
- rs1890101390
- ClinGen CA390865420
- NCI-TCGA Cosmic COSV5861
- Pathogenic
- DICER1-related tumor predisposition
- Missense
- Variant Prioritization Score for Impact Estimate 0.959
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic (DICER1-related tumor predisposition)
- EBI: Pathogenic (in PPB)
- UniProt: Pathogenic (in PPB)
- Structural context available
- Cited in: DICER1-Related Tumor Predisposition. (PMID 24761742)