E2* (p.Glu2Ter) variant of PMS2 (P54278)
E2* (p.Glu2Ter) 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.
E2* (p.Glu2Ter) variant details
- p.Glu2Ter
- rs1554309080
- ClinGen CA366745246
- cosmic curated COSV99764
- ClinVar RCV001958693
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.882
- CADD 52.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-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)
- Cited in: Lynch Syndrome. (PMID 20301390)