Q7R (p.Gln7Arg) variant of DICER1 (Endoribonuclease Dicer)
Q7R (p.Gln7Arg) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
Q7R (p.Gln7Arg) variant details
- p.Gln7Arg
- rs117358479
- ClinGen CA332137
- cosmic curated COSV58626
- ClinVar RCV000120631
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.05
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.29
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:ADYGEI population (allele frequency 0.029)
- Structural context available
- Cited in: American Society of Clinical Oncology 2007 update of recommendations for the use of tumor markers in breast cancer. (PMID 17954709)
- Cited in: National Academy of Clinical Biochemistry laboratory medicine practice guidelines for use of tumor markers in… (PMID 19042984)