Q25E (p.Gln25Glu) variant of PMS2 (P54278)
Q25E (p.Gln25Glu) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
Q25E (p.Gln25Glu) variant details
- p.Gln25Glu
- rs1554306528
- ClinGen CA366745115
- NCI-TCGA Cosmic COSV5615
- ClinVar RCV002380513
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- AlphaMissense 0.16
- MetaLR 0.77
- MetaSVM 0.61
- PolyPhen-2 0.94
- SIFT 0.01
- EVE 0.81
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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)