T18I (p.Thr18Ile) variant of DICER1 (Endoribonuclease Dicer)
T18I (p.Thr18Ile) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from ClinVar 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 0.49 / 1. The record also includes population frequency data and structural context.
T18I (p.Thr18Ile) variant details
- p.Thr18Ile
- Ensembl rs2140296198
- Uncertain significance
- DICER1-related tumor predisposition
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.27
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (DICER1-related tumor predisposition)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available