A12S (p.Ala12Ser) variant of DICER1 (Endoribonuclease Dicer)
A12S (p.Ala12Ser) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of DICER1-related tumor predisposition; Hereditary cancer-predisposing syndrome. 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.
A12S (p.Ala12Ser) variant details
- p.Ala12Ser
- rs1566816656
- ClinGen CA390890736
- ClinVar RCV002001780
- ClinVar RCV002458946
- Uncertain significance
- DICER1-related tumor predisposition; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.28
- CADD 23.80
- PolyPhen-2 0.98
- SIFT 0.06
- ClinVar: Uncertain significance (DICER1-related tumor predisposition; Hereditary cancer-predispos)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)