G1708R (p.Gly1708Arg) variant of DICER1 (Endoribonuclease Dicer)
G1708R (p.Gly1708Arg) 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G1708R (p.Gly1708Arg) variant details
- p.Gly1708Arg
- rs2139815940
- ClinGen CA390865401
- ClinVar RCV001876605
- Ensembl rs2139815940
- Likely pathogenic
- DICER1-related tumor predisposition
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- REVEL 0.98
- CADD 28.20
- PolyPhen-2 1.00
- 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 1.8e-06)
- Structural context available
- Cited in: DICER1-Related Tumor Predisposition. (PMID 24761742)