Q4* (p.Gln4Ter) variant of MSH2 (DNA mismatch repair protein Msh2)
Q4* (p.Gln4Ter) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
Q4* (p.Gln4Ter) variant details
- p.Gln4Ter
- rs878853797
- ClinGen CA346728415
- cosmic curated COSV51878
- ClinVar RCV000701344
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.789
- AlphaMissense 0.24
- MetaLR 0.79
- MetaSVM 0.61
- CADD 41.00
- PolyPhen-2 0.07
- SIFT 0.06
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:ADYGEI population (allele frequency 0.088)
- 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)