A11G (p.Ala11Gly) variant of POLE (Q07864)
A11G (p.Ala11Gly) 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 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A11G (p.Ala11Gly) variant details
- p.Ala11Gly
- rs1060500821
- ClinGen CA387373430
- ClinVar RCV001762585
- ClinVar RCV005262417
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.02
- CADD 9.04
- PolyPhen-2 0.00
- SIFT 0.38
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- 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)