A19T (p.Ala19Thr) variant of POLE (Q07864)
A19T (p.Ala19Thr) 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 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A19T (p.Ala19Thr) variant details
- p.Ala19Thr
- rs1391962080
- ClinGen CA387373317
- ClinVar RCV002350598
- ClinVar RCV003770757
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.04
- CADD 9.24
- PolyPhen-2 0.00
- SIFT 0.57
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.3e-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)