T60I (p.Thr60Ile) variant of DICER1 (Endoribonuclease Dicer)
T60I (p.Thr60Ile) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
T60I (p.Thr60Ile) variant details
- p.Thr60Ile
- rs587778228
- ClinGen CA158267
- ClinVar RCV000120637
- ClinVar RCV000230149
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.32
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.47
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 0.00013)
- 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)