E1813Q (p.Glu1813Gln) variant of DICER1 (Endoribonuclease Dicer)
E1813Q (p.Glu1813Gln) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of DICER1-related tumor predisposition; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
E1813Q (p.Glu1813Gln) variant details
- p.Glu1813Gln
- rs1889806807
- ClinGen CA390864655
- cosmic curated COSV58617
- ClinVar RCV001201100
- Conflicting interpretations
- DICER1-related tumor predisposition; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- AlphaMissense 1.00
- MetaLR 0.89
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.86
- ClinVar: Conflicting classifications of pathogenicity (DICER1-related tumor predisposition; Hereditary cancer-predispos)
- EBI: Pathogenic (in PPB)
- UniProt: Pathogenic (in PPB)
- Structural context available
- Cited in: Recurrent somatic DICER1 mutations in nonepithelial ovarian cancers. (PMID 22187960)
- Cited in: Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in pleuropulmonary… (PMID 26925222)