E16D (p.Glu16Asp) variant of MSH2 (DNA mismatch repair protein Msh2)
E16D (p.Glu16Asp) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
E16D (p.Glu16Asp) variant details
- p.Glu16Asp
- rs1060502036
- ClinGen CA16610768
- ClinVar RCV000469251
- ClinVar RCV000581112
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.35
- MetaLR 0.79
- MetaSVM 0.54
- CADD 17.50
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- 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)
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)