T71R (p.Thr71Arg) variant of DICER1 (Endoribonuclease Dicer)
T71R (p.Thr71Arg) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
T71R (p.Thr71Arg) variant details
- p.Thr71Arg
- ESP rs376657431
- ExAC rs376657431
- TOPMed rs376657431
- gnomAD rs376657431
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.91
- CADD 24.50
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available