R30Q (p.Arg30Gln) variant of POLD1 (P28340)
R30Q (p.Arg30Gln) in POLD1 (P28340) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hereditary cancer-predisposing syndrome; Colorectal cancer, suscep. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
R30Q (p.Arg30Gln) variant details
- p.Arg30Gln
- rs765969481
- ClinGen CA406970114
- cosmic curated COSV70956
- ClinVar RCV000818343
- Conflicting interpretations
- not provided; Hereditary cancer-predisposing syndrome; Colorectal cancer, suscep
- Missense
- Variant Prioritization Score for Impact Estimate 0.0823
- REVEL 0.02
- AlphaMissense 0.09
- MetaLR 0.01
- MetaSVM -0.91
- CADD 0.16
- PolyPhen-2 0.04
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary cancer-predisposing syndrome; Colorecta)
- EBI: Likely benign (in dbSNP:rs3218772)
- UniProt: Likely benign (in dbSNP:rs3218772)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- 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)