A28V (p.Ala28Val) variant of POLD1 (P28340)
A28V (p.Ala28Val) in POLD1 (P28340) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Colorectal cancer, susceptibility to, 10; Hereditary cancer-predis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A28V (p.Ala28Val) variant details
- p.Ala28Val
- rs765097158
- ClinGen CA9595612
- ClinVar RCV000537097
- ClinVar RCV001764580
- Uncertain significance
- not provided; Colorectal cancer, susceptibility to, 10; Hereditary cancer-predis
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.03
- CADD 1.48
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (not provided; Colorectal cancer, susceptibility to, 10; Heredita)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-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)