G13D (p.Gly13Asp) variant of DICER1 (Endoribonuclease Dicer)
G13D (p.Gly13Asp) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
G13D (p.Gly13Asp) variant details
- p.Gly13Asp
- rs1060503610
- ClinGen CA16614734
- ClinVar RCV000476538
- ClinVar RCV001021389
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.26
- CADD 24.50
- PolyPhen-2 0.93
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)