R3* (p.Arg3Ter) variant of PMS2 (P54278)
R3* (p.Arg3Ter) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R3* (p.Arg3Ter) variant details
- p.Arg3Ter
- rs763939668
- ClinGen CA10577360
- NCI-TCGA Cosmic COSV5615
- cosmic curated COSV56152
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.498
- CADD 39.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.3e-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)
- Cited in: Lynch Syndrome. (PMID 20301390)