G803R (p.Gly803Arg) variant of DICER1 (Endoribonuclease Dicer)
G803R (p.Gly803Arg) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of DICER1-related tumor predisposition. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
G803R (p.Gly803Arg) variant details
- p.Gly803Arg
- rs1891645525
- ClinGen CA390882107
- cosmic curated COSV10818
- ClinVar RCV001201002
- Likely pathogenic
- DICER1-related tumor predisposition
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.81
- CADD 27.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (DICER1-related tumor predisposition)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: DICER1-Related Tumor Predisposition. (PMID 24761742)