E10* (p.Glu10Ter) variant of PMS2 (P54278)
E10* (p.Glu10Ter) 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 0.60 / 1. The record also includes published literature and structural context.
E10* (p.Glu10Ter) variant details
- p.Glu10Ter
- rs2128847171
- ClinGen CA366745198
- NCI-TCGA Cosmic COSV9976
- cosmic curated COSV99764
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.599
- AlphaMissense 0.11
- MetaLR 0.71
- MetaSVM 0.39
- PolyPhen-2 0.93
- SIFT 0.02
- MutPred 0.16
- 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)