G6R (p.Gly6Arg) variant of POLE (Q07864)
G6R (p.Gly6Arg) in POLE (Q07864) 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 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
G6R (p.Gly6Arg) variant details
- p.Gly6Arg
- rs202220778
- ClinGen CA248991
- cosmic curated COSV57686
- ClinVar RCV000202795
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0725
- REVEL 0.03
- CADD 9.13
- PolyPhen-2 0.00
- SIFT 0.29
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:ORCADIAN population (allele frequency 0.036)
- Structural context available
- Cited in: ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer. (PMID 17060676)
- Cited in: National Academy of Clinical Biochemistry laboratory medicine practice guidelines for use of tumor markers in… (PMID 19042984)