A25S (p.Ala25Ser) variant of POLE (Q07864)
A25S (p.Ala25Ser) in POLE (Q07864) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
A25S (p.Ala25Ser) variant details
- p.Ala25Ser
- rs773204331
- ClinGen CA387370661
- cosmic curated COSV10588
- NCI-TCGA Cosmic COSV5768
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0525
- REVEL 0.03
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)