T43R (p.Thr43Arg) variant of DICER1 (Endoribonuclease Dicer)
T43R (p.Thr43Arg) 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
T43R (p.Thr43Arg) variant details
- p.Thr43Arg
- rs367797765
- ClinGen CA390890395
- ClinVar RCV000497812
- ClinVar RCV003105927
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.49
- CADD 28.10
- PolyPhen-2 0.84
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: DICER1-Related Tumor Predisposition. (PMID 24761742)