L787R (p.Leu787Arg) variant of MSH2 (DNA mismatch repair protein Msh2)
L787R (p.Leu787Arg) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary nonpolyposis colon cancer; Hereditary cancer-predisposing syndrome; L. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
L787R (p.Leu787Arg) variant details
- p.Leu787Arg
- rs1558521929
- ClinGen CA346730002
- ClinVar RCV000758593
- ClinVar RCV001269395
- Pathogenic/Likely pathogenic
- Hereditary nonpolyposis colon cancer; Hereditary cancer-predisposing syndrome; L
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.72
- MetaSVM 0.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary nonpolyposis colon cancer; Hereditary cancer-predispo)
- 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: European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines… (PMID 34043773)