G803E (p.Gly803Glu) variant of DICER1 (Endoribonuclease Dicer)
G803E (p.Gly803Glu) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
G803E (p.Gly803Glu) variant details
- p.Gly803Glu
- rs1891645266
- ClinGen CA390882105
- ClinVar RCV001212670
- Ensembl rs1891645266
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- AlphaMissense 1.00
- MetaLR 0.75
- MetaSVM 0.22
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: DICER1-Related Tumor Predisposition. (PMID 24761742)