L9P (p.Leu9Pro) variant of MSH2 (DNA mismatch repair protein Msh2)
L9P (p.Leu9Pro) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
L9P (p.Leu9Pro) variant details
- p.Leu9Pro
- rs1573422744
- ClinGen CA346728473
- ClinVar RCV002428998
- ClinVar RCV004999762
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.31
- MetaLR 0.86
- MetaSVM 0.91
- CADD 32.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- 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)