S21F (p.Ser21Phe) variant of DICER1 (Endoribonuclease Dicer)
S21F (p.Ser21Phe) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary cancer-predisposing syndrome; DICER1-related tumor pred. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
S21F (p.Ser21Phe) variant details
- p.Ser21Phe
- rs1289924579
- ClinGen CA390890625
- cosmic curated COSV99064
- ClinVar RCV001319093
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; DICER1-related tumor pred
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.28
- CADD 26.70
- PolyPhen-2 0.64
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; DICER1-re)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)