D2H (p.Asp2His) variant of POLD1 (P28340)
D2H (p.Asp2His) 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; not provided; Colorectal cancer, suscep. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
D2H (p.Asp2His) variant details
- p.Asp2His
- rs2038467819
- ClinGen CA406969958
- ClinVar RCV001343532
- ClinVar RCV003238350
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Colorectal cancer, suscep
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- AlphaMissense 0.37
- MetaLR 0.07
- MetaSVM -1.04
- PolyPhen-2 0.72
- SIFT 0.01
- MutPred 0.17
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Colorecta)
- 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)