S38C (p.Ser38Cys) variant of POLE (Q07864)
S38C (p.Ser38Cys) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
S38C (p.Ser38Cys) variant details
- p.Ser38Cys
- rs879254247
- ClinGen CA10584416
- ClinVar RCV000236959
- ClinVar RCV005462926
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.12
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.19
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 3.3e-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)