S5N (p.Ser5Asn) variant of POLE (Q07864)
S5N (p.Ser5Asn) 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 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
S5N (p.Ser5Asn) variant details
- p.Ser5Asn
- rs1167872104
- ClinGen CA387373521
- ClinVar RCV003541111
- ClinVar RCV005262190
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.081
- REVEL 0.02
- CADD 1.08
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)