Q690K (p.Gln690Lys) variant of MSH2 (DNA mismatch repair protein Msh2)
Q690K (p.Gln690Lys) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary nonpolyposis colorectal neoplasms; Lynch syndrome 1; Hereditary cance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
Q690K (p.Gln690Lys) variant details
- p.Gln690Lys
- rs587779134
- ClinGen CA346729177
- ClinVar RCV002422071
- ClinVar RCV003454322
- Likely pathogenic
- Hereditary nonpolyposis colorectal neoplasms; Lynch syndrome 1; Hereditary cance
- Missense
- Variant Prioritization Score for Impact Estimate 0.928
- ESM-1b 1.00
- AlphaMissense 0.91
- MetaLR 0.89
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hereditary nonpolyposis colorectal neoplasms; Lynch syndrome 1;)
- 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)
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)