S2C (p.Ser2Cys) variant of POLE (Q07864)
S2C (p.Ser2Cys) 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 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
S2C (p.Ser2Cys) variant details
- p.Ser2Cys
- rs1060500890
- ClinGen CA387373562
- ClinVar RCV002356942
- ClinVar RCV003541295
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.02
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 0.07
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 8.5e-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)