T26A (p.Thr26Ala) variant of POLE (Q07864)
T26A (p.Thr26Ala) 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 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
T26A (p.Thr26Ala) variant details
- p.Thr26Ala
- rs182282150
- ClinGen CA6894451
- cosmic curated COSV57681
- ClinVar RCV002461972
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.07
- AlphaMissense 0.06
- MetaLR 0.01
- MetaSVM -0.91
- CADD 0.10
- PolyPhen-2 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- 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)