G25D (p.Gly25Asp) variant of DICER1 (Endoribonuclease Dicer)
G25D (p.Gly25Asp) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
G25D (p.Gly25Asp) variant details
- p.Gly25Asp
- rs1555376566
- ClinGen CA390890561
- cosmic curated COSV10591
- ClinVar RCV000561019
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.40
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-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)