L9M (p.Leu9Met) variant of MSH2 (DNA mismatch repair protein Msh2)
L9M (p.Leu9Met) 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 cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
L9M (p.Leu9Met) variant details
- p.Leu9Met
- rs1672231681
- ClinGen CA346728467
- ClinVar RCV001178769
- Ensembl rs1672231681
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.53
- ESM-1b 1.00
- AlphaMissense 0.15
- MetaLR 0.80
- MetaSVM 0.64
- CADD 23.60
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-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)