G6S (p.Gly6Ser) variant of POLE (Q07864)
G6S (p.Gly6Ser) in POLE (Q07864) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
G6S (p.Gly6Ser) variant details
- p.Gly6Ser
- rs202220778
- ClinGen CA387373509
- ClinVar RCV002466639
- ClinVar RCV005262310
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0744
- REVEL 0.05
- CADD 4.33
- PolyPhen-2 0.00
- SIFT 0.98
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- 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)