S22* (p.Ser22Ter) variant of PMS2 (P54278)
S22* (p.Ser22Ter) in PMS2 (P54278) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
S22* (p.Ser22Ter) variant details
- p.Ser22Ter
- rs767028531
- ClinGen CA366745128
- ClinVar RCV001233504
- ClinVar RCV002375243
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.876
- CADD 41.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- 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)
- Cited in: Lynch Syndrome. (PMID 20301390)