A25T (p.Ala25Thr) variant of POLE (Q07864)
A25T (p.Ala25Thr) in POLE (Q07864) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. 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.
A25T (p.Ala25Thr) variant details
- p.Ala25Thr
- rs773204331
- ClinGen CA6894453
- NCI-TCGA Cosmic COSV5768
- cosmic curated COSV57689
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.048
- REVEL 0.03
- CADD 0.06
- PolyPhen-2 0.00
- SIFT 0.62
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 6.6e-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)