G69R (p.Gly69Arg) variant of DICER1 (Endoribonuclease Dicer)
G69R (p.Gly69Arg) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G69R (p.Gly69Arg) variant details
- p.Gly69Arg
- rs1595466411
- ClinGen CA390889986
- ClinVar RCV001014272
- Ensembl rs1595466411
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.96
- CADD 24.50
- PolyPhen-2 0.97
- SIFT 0.10
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)