E1813V (p.Glu1813Val) variant of DICER1 (Endoribonuclease Dicer)
E1813V (p.Glu1813Val) 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 0.92 / 1. The record also includes published literature and structural context.
E1813V (p.Glu1813Val) variant details
- p.Glu1813Val
- rs1889806272
- ClinGen CA390864651
- cosmic curated COSV58615
- ClinVar RCV001201103
- Pathogenic
- DICER1-related tumor predisposition
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- AlphaMissense 0.99
- MetaLR 0.88
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.89
- 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: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)