R30L (p.Arg30Leu) variant of POLD1 (P28340)
R30L (p.Arg30Leu) in POLD1 (P28340) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Colorectal cancer, susceptibility to, 10; Hereditary cancer-predisposing syndrom. 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.
R30L (p.Arg30Leu) variant details
- p.Arg30Leu
- rs765969481
- ClinGen CA9595614
- ClinVar RCV001070665
- ClinVar RCV002374995
- Uncertain significance
- Colorectal cancer, susceptibility to, 10; Hereditary cancer-predisposing syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.0814
- REVEL 0.02
- AlphaMissense 0.09
- MetaLR 0.01
- MetaSVM -0.91
- CADD 0.60
- PolyPhen-2 0.04
- ClinVar: Uncertain significance (Colorectal cancer, susceptibility to, 10; Hereditary cancer-pred)
- EBI: Likely benign (in dbSNP:rs3218772)
- UniProt: Likely benign (in dbSNP:rs3218772)
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- 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)