P14S (p.Pro14Ser) variant of POLD1 (P28340)
P14S (p.Pro14Ser) 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; Hereditary cancer-predisposing syndrome; Colorectal cancer, suscep. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P14S (p.Pro14Ser) variant details
- p.Pro14Ser
- rs1402598316
- ClinGen CA406970024
- ClinVar RCV001363620
- ClinVar RCV002322332
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; Colorectal cancer, suscep
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.07
- AlphaMissense 0.07
- MetaLR 0.11
- MetaSVM -0.90
- CADD 21.80
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; Colorecta)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.4e-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)