F28C (p.Phe28Cys) variant of DICER1 (Endoribonuclease Dicer)
F28C (p.Phe28Cys) 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; DICER1-related tumor predisposition. 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.
F28C (p.Phe28Cys) variant details
- p.Phe28Cys
- rs61729796
- ClinGen CA265927715
- ClinVar RCV001207516
- ClinVar RCV002447067
- Uncertain significance
- Hereditary cancer-predisposing syndrome; DICER1-related tumor predisposition
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.58
- CADD 28.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; DICER1-related tumor pr)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)