D2G (p.Asp2Gly) variant of POLD1 (P28340)
D2G (p.Asp2Gly) 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.
D2G (p.Asp2Gly) variant details
- p.Asp2Gly
- rs2122193463
- ClinGen CA406969961
- ClinVar RCV002357963
- ClinVar RCV006559084
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Colorectal cancer, susceptibility to, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- AlphaMissense 0.15
- MetaLR 0.06
- MetaSVM -1.05
- PolyPhen-2 0.13
- SIFT 0.04
- MutPred 0.20
- 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)