S2F (p.Ser2Phe) variant of POLE (Q07864)
S2F (p.Ser2Phe) 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 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S2F (p.Ser2Phe) variant details
- p.Ser2Phe
- rs1060500890
- ClinGen CA16613680
- ClinVar RCV001753874
- ClinVar RCV005260111
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.04
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.03
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.8e-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)