G1809W (p.Gly1809Trp) variant of DICER1 (Endoribonuclease Dicer)
G1809W (p.Gly1809Trp) 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 0.80 / 1. The record also includes published literature and structural context.
G1809W (p.Gly1809Trp) variant details
- p.Gly1809Trp
- rs1595314951
- ClinGen CA390864682
- cosmic curated COSV58615
- ClinVar RCV001201089
- Pathogenic
- DICER1-related tumor predisposition
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- AlphaMissense 1.00
- MetaLR 0.77
- MetaSVM 0.79
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.62
- 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)
- Cited in: Canadian guideline on genetic screening for hereditary renal cell cancers. (PMID 24319509)