A15T (p.Ala15Thr) variant of POLE (Q07864)
A15T (p.Ala15Thr) 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 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A15T (p.Ala15Thr) variant details
- p.Ala15Thr
- rs1060500788
- ClinGen CA16613754
- ClinVar RCV001563277
- ClinVar RCV005260063
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.04
- AlphaMissense 0.07
- MetaLR 0.01
- MetaSVM -0.80
- CADD 10.50
- PolyPhen-2 0.20
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 3.6e-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)