I41V (p.Ile41Val) variant of DICER1 (Endoribonuclease Dicer)
I41V (p.Ile41Val) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
I41V (p.Ile41Val) variant details
- p.Ile41Val
- rs1894116766
- ClinGen CA390890425
- ClinVar RCV001342246
- ClinVar RCV002357182
- Uncertain significance
- DICER1-related tumor predisposition; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.24
- CADD 22.90
- PolyPhen-2 0.89
- SIFT 0.70
- ClinVar: Uncertain significance (DICER1-related tumor predisposition; Hereditary cancer-predispos)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- 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)