S16* (p.Ser16Ter) variant of MSH3 (DNA mismatch repair protein Msh3)
S16* (p.Ser16Ter) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
S16* (p.Ser16Ter) variant details
- p.Ser16Ter
- rs944680882
- ClinGen CA121287684
- ClinVar RCV003091448
- ClinVar RCV003367986
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.461
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 3.3e-05)
- 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)