G1809R (p.Gly1809Arg) variant of DICER1 (Endoribonuclease Dicer)
G1809R (p.Gly1809Arg) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of DICER1-related tumor predisposition. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G1809R (p.Gly1809Arg) variant details
- p.Gly1809Arg
- rs1595314951
- ClinGen CA390864683
- NCI-TCGA Cosmic COSV5861
- cosmic curated COSV58615
- Likely pathogenic
- DICER1-related tumor predisposition
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.85
- AlphaMissense 1.00
- MetaLR 0.77
- MetaSVM 0.79
- CADD 27.50
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (DICER1-related tumor predisposition)
- EBI: Pathogenic (in PPB)
- UniProt: Pathogenic (in PPB)
- Population evidence available
- Structural context available
- Cited in: Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in pleuropulmonary… (PMID 26925222)
- Cited in: Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for… (PMID 22918138)