P7Q (p.Pro7Gln) variant of POLD1 (P28340)
P7Q (p.Pro7Gln) in POLD1 (P28340) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Colorectal cancer, susceptibility to, 1. 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.
P7Q (p.Pro7Gln) variant details
- p.Pro7Gln
- rs2038469040
- ClinGen CA406969988
- ClinVar RCV001043362
- ClinVar RCV005463216
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Colorectal cancer, susceptibility to, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.12
- CADD 9.82
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Colorectal cancer, susc)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)