T66I (p.Thr66Ile) variant of DICER1 (Endoribonuclease Dicer)
T66I (p.Thr66Ile) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
T66I (p.Thr66Ile) variant details
- p.Thr66Ile
- rs777362732
- ClinGen CA7331716
- ClinVar RCV001911645
- ClinVar RCV002423002
- Uncertain significance
- DICER1-related tumor predisposition; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.66
- CADD 24.30
- PolyPhen-2 0.31
- SIFT 0.04
- ClinVar: Uncertain significance (DICER1-related tumor predisposition; Hereditary cancer-predispos)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-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)