R26* (p.Arg26Ter) variant of MSH3 (DNA mismatch repair protein Msh3)
R26* (p.Arg26Ter) in MSH3 (DNA mismatch repair protein Msh3) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R26* (p.Arg26Ter) variant details
- p.Arg26Ter
- rs770190473
- ClinGen CA3327428
- ClinVar RCV001383336
- ClinVar RCV002404898
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.604
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)
- Cited in: Endometrial cancer: a review and current management strategies: part I. (PMID 24905773)