R6Q (p.Arg6Gln) variant of POLD1 (P28340)
R6Q (p.Arg6Gln) in POLD1 (P28340) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Colorectal cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R6Q (p.Arg6Gln) variant details
- p.Arg6Gln
- rs778275831
- ClinGen CA9595583
- ClinVar RCV000211516
- ClinVar RCV000411457
- Conflicting interpretations
- not specified; not provided; Colorectal cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.10
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Colorectal cancer)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available
- Cited in: Lynch Syndrome. (PMID 20301390)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)