E1813K (p.Glu1813Lys) variant of DICER1 (Endoribonuclease Dicer)
E1813K (p.Glu1813Lys) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
E1813K (p.Glu1813Lys) variant details
- p.Glu1813Lys
- rs1889806807
- ClinGen CA390864656
- cosmic curated COSV58615
- ClinVar RCV001201099
- Conflicting interpretations
- DICER1-related tumor predisposition; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.87
- AlphaMissense 1.00
- MetaLR 0.89
- MetaSVM 1.06
- CADD 28.20
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (DICER1-related tumor predisposition; Hereditary cancer-predispos)
- EBI: Pathogenic (in non-epithelial ovarian tumor)
- UniProt: Pathogenic (in non-epithelial ovarian tumor)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Recurrent somatic DICER1 mutations in nonepithelial ovarian cancers. (PMID 22187960)
- Cited in: DICER1-Related Tumor Predisposition. (PMID 24761742)