Q4* (p.Gln4Ter) variant of MSH6 (DNA mismatch repair protein Msh6)
Q4* (p.Gln4Ter) in MSH6 (DNA mismatch repair protein Msh6) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Q4* (p.Gln4Ter) variant details
- p.Gln4Ter
- rs786201042
- ClinGen CA008028
- cosmic curated COSV52282
- ClinVar RCV000162425
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.845
- CADD 40.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population. (PMID 25318681)
- Cited in: ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer. (PMID 17060676)