S27F (p.Ser27Phe) variant of POLE (Q07864)
S27F (p.Ser27Phe) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S27F (p.Ser27Phe) variant details
- p.Ser27Phe
- rs1593088347
- ClinGen CA387370618
- ClinVar RCV001759512
- ClinVar RCV004027597
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.12
- CADD 23.20
- PolyPhen-2 0.33
- SIFT 0.04
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3e-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)