E1813A (p.Glu1813Ala) variant of DICER1 (Endoribonuclease Dicer)
E1813A (p.Glu1813Ala) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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.
E1813A (p.Glu1813Ala) variant details
- p.Glu1813Ala
- rs1889806272
- ClinGen CA390864653
- NCI-TCGA Cosmic COSV5861
- Uncertain significance
- 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: Uncertain significance (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: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)