E28D (p.Glu28Asp) variant of MSH2 (DNA mismatch repair protein Msh2)
E28D (p.Glu28Asp) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
E28D (p.Glu28Asp) variant details
- p.Glu28Asp
- rs752220575
- ExAC rs752220575
- TOPMed rs752220575
- gnomAD rs752220575
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- ESM-1b 0.41
- AlphaMissense 0.11
- MetaLR 0.50
- MetaSVM -0.27
- PolyPhen-2 0.01
- SIFT 0.19
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Likely benign
- UniProt: Likely benign
- 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)