E12D (p.Glu12Asp) variant of MSH2 (DNA mismatch repair protein Msh2)
E12D (p.Glu12Asp) 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; Lynch syndrome; Hereditary cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
E12D (p.Glu12Asp) variant details
- p.Glu12Asp
- rs1558451303
- ClinGen CA346728515
- ClinVar RCV000690765
- ClinVar RCV003323690
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; Lynch syndrome; Hereditary cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.22
- MetaSVM -0.76
- CADD 15.90
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; Lynch syndrome; He)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- 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)