S3R (p.Ser3Arg) variant of DICER1 (Endoribonuclease Dicer)
S3R (p.Ser3Arg) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S3R (p.Ser3Arg) variant details
- p.Ser3Arg
- rs1894132635
- ClinGen CA390890844
- ClinVar RCV001352613
- ClinVar RCV002420771
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.32
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)