T43M (p.Thr43Met) variant of DICER1 (Endoribonuclease Dicer)
T43M (p.Thr43Met) 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 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
T43M (p.Thr43Met) variant details
- p.Thr43Met
- rs367797765
- ClinGen CA7331742
- cosmic curated COSV58628
- ClinVar RCV000474678
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.43
- CADD 28.40
- PolyPhen-2 0.93
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-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)