A11T (p.Ala11Thr) variant of POLE (Q07864)
A11T (p.Ala11Thr) 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 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
A11T (p.Ala11Thr) variant details
- p.Ala11Thr
- rs1593099072
- ClinGen CA387373439
- ClinVar RCV002325569
- ClinVar RCV003540966
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0642
- REVEL 0.01
- CADD 8.77
- PolyPhen-2 0.01
- SIFT 0.56
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)