E35V (p.Glu35Val) variant of POLD1 (P28340)
E35V (p.Glu35Val) 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 0.29 / 1. The record also includes published literature and structural context.
E35V (p.Glu35Val) variant details
- p.Glu35Val
- rs1060501832
- ClinGen CA16616104
- ClinVar RCV000476945
- ClinVar RCV001764403
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Colorectal cancer, suscep
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- AlphaMissense 0.75
- MetaLR 0.02
- MetaSVM -1.08
- PolyPhen-2 0.91
- SIFT 0.04
- MutPred 0.32
- 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)