L11* (p.Leu11Ter) variant of MSH2 (DNA mismatch repair protein Msh2)
L11* (p.Leu11Ter) in MSH2 (DNA mismatch repair protein Msh2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
L11* (p.Leu11Ter) variant details
- p.Leu11Ter
- rs2103868483
- ClinGen CA346728494
- ClinVar RCV003450107
- Ensembl rs2103868483
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.736
- CADD 44.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)
- Cited in: American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. (PMID 20065170)