D27G (p.Asp27Gly) variant of POLD1 (P28340)
D27G (p.Asp27Gly) in POLD1 (P28340) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
D27G (p.Asp27Gly) variant details
- p.Asp27Gly
- rs150066950
- ClinGen CA9595610
- ClinVar RCV001768931
- ClinVar RCV003640987
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Colorectal cancer, susceptibility to, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.05
- CADD 14.50
- PolyPhen-2 0.02
- SIFT 0.14
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Colorectal cancer, susc)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)