P14A (p.Pro14Ala) variant of POLD1 (P28340)
P14A (p.Pro14Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
P14A (p.Pro14Ala) variant details
- p.Pro14Ala
- rs1402598316
- ClinGen CA406970023
- ClinVar RCV004516124
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- AlphaMissense 0.07
- MetaLR 0.11
- MetaSVM -0.90
- PolyPhen-2 0.01
- SIFT 0.15
- MutPred 0.26
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)