E5G (p.Glu5Gly) variant of PMS2 (P54278)
E5G (p.Glu5Gly) 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; Hereditary nonpolyposis colorectal neop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
E5G (p.Glu5Gly) variant details
- p.Glu5Gly
- rs876659080
- ClinGen CA366745234
- ClinVar RCV001064928
- ClinVar RCV002393315
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- AlphaMissense 0.06
- MetaLR 0.50
- MetaSVM -0.73
- PolyPhen-2 0.01
- SIFT 0.09
- MutPred 0.23
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)