D37N (p.Asp37Asn) variant of POLD1 (P28340)
D37N (p.Asp37Asn) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
D37N (p.Asp37Asn) variant details
- p.Asp37Asn
- rs754269222
- ClinGen CA9595618
- ClinVar RCV001037683
- ClinVar RCV002280150
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Colorectal cancer, susceptibility to, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.09
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Colorectal cancer, susc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.6e-05)
- 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)