D37E (p.Asp37Glu) variant of POLD1 (P28340)
D37E (p.Asp37Glu) in POLD1 (P28340) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
D37E (p.Asp37Glu) variant details
- p.Asp37Glu
- rs1260697914
- gnomAD rs1260697914
- ClinGen CA406970162
- ClinVar RCV003385766
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- REVEL 0.03
- CADD 5.81
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- 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)