P29S (p.Pro29Ser) variant of POLD1 (P28340)
P29S (p.Pro29Ser) 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 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
P29S (p.Pro29Ser) variant details
- p.Pro29Ser
- rs750303995
- ClinGen CA9595613
- ClinVar RCV000471199
- ClinVar RCV001551983
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Colorectal cancer, suscep
- Missense
- Variant Prioritization Score for Impact Estimate 0.0729
- REVEL 0.01
- CADD 3.46
- PolyPhen-2 0.00
- SIFT 0.70
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Colorecta)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)