S38R (p.Ser38Arg) variant of POLE (Q07864)
S38R (p.Ser38Arg) in POLE (Q07864) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
S38R (p.Ser38Arg) variant details
- p.Ser38Arg
- rs2043160789
- TOPMed rs2043160789
- ClinGen CA387370336
- cosmic curated COSV10588
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.16
- CADD 14.30
- PolyPhen-2 0.01
- SIFT 0.38
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-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)