Q24* (p.Gln24Ter) variant of MSH2 (DNA mismatch repair protein Msh2)
Q24* (p.Gln24Ter) 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
Q24* (p.Gln24Ter) variant details
- p.Gln24Ter
- rs587779976
- ClinGen CA022076
- cosmic curated COSV10940
- ClinVar RCV000115541
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.71
- CADD 40.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)