E35K (p.Glu35Lys) variant of POLD1 (P28340)
E35K (p.Glu35Lys) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E35K (p.Glu35Lys) variant details
- p.Glu35Lys
- rs554554906
- ClinGen CA9595617
- cosmic curated COSV70956
- ClinVar RCV000463677
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Colorectal cancer, suscep
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.19
- CADD 25.30
- PolyPhen-2 0.14
- SIFT 0.03
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Colorecta)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- 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)