G10R (p.Gly10Arg) variant of POLD1 (P28340)
G10R (p.Gly10Arg) in POLD1 (P28340) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.31 / 1. The record also includes published literature and structural context.
G10R (p.Gly10Arg) variant details
- p.Gly10Arg
- rs2038469598
- ClinGen CA406970004
- cosmic curated COSV70955
- ClinVar RCV001248416
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Colorectal cancer, susceptibility to, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- AlphaMissense 0.26
- MetaLR 0.04
- MetaSVM -1.00
- PolyPhen-2 0.00
- SIFT 0.08
- MutPred 0.29
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Colorectal cancer, susc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)