C27* (p.Cys27Ter) variant of PMS2 (P54278)
C27* (p.Cys27Ter) 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 0.77 / 1. The record also includes published literature and structural context.
C27* (p.Cys27Ter) variant details
- p.Cys27Ter
- rs2128845860
- ClinGen CA366745095
- ClinVar RCV002427905
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.766
- AlphaMissense 0.98
- MetaLR 0.74
- MetaSVM 0.48
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.92
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)