E7* (p.Glu7Ter) variant of MSH2 (DNA mismatch repair protein Msh2)
E7* (p.Glu7Ter) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
E7* (p.Glu7Ter) variant details
- p.Glu7Ter
- rs375561490
- ClinGen CA346728451
- ClinVar RCV001014004
- ClinVar RCV004588466
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.878
- CADD 43.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
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