Q10* (p.Gln10Ter) variant of MSH2 (DNA mismatch repair protein Msh2)
Q10* (p.Gln10Ter) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
Q10* (p.Gln10Ter) variant details
- p.Gln10Ter
- rs63751099
- ClinGen CA020976
- ClinVar RCV000076557
- ClinVar RCV000804938
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.886
- CADD 43.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
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