S38N (p.Ser38Asn) variant of POLE (Q07864)
S38N (p.Ser38Asn) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S38N (p.Ser38Asn) variant details
- p.Ser38Asn
- rs141424313
- ClinGen CA6894441
- ClinVar RCV001584137
- ClinVar RCV004022579
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.07
- CADD 19.80
- PolyPhen-2 0.02
- SIFT 0.30
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- 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)