I37F (p.Ile37Phe) variant of DICER1 (Endoribonuclease Dicer)
I37F (p.Ile37Phe) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
I37F (p.Ile37Phe) variant details
- p.Ile37Phe
- rs772381832
- ClinGen CA7331745
- ClinVar RCV000471095
- ClinVar RCV002446844
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.34
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00038)
- 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)