F28S (p.Phe28Ser) variant of DICER1 (Endoribonuclease Dicer)
F28S (p.Phe28Ser) 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
F28S (p.Phe28Ser) variant details
- p.Phe28Ser
- rs61729796
- ClinGen CA7331749
- ClinVar RCV000460921
- ClinVar RCV001017710
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.45
- CADD 29.10
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 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)