Q29* (p.Gln29Ter) variant of MSH3 (DNA mismatch repair protein Msh3)
Q29* (p.Gln29Ter) 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 0.63 / 1. The record also includes population frequency data and structural context.
Q29* (p.Gln29Ter) variant details
- p.Gln29Ter
- rs1283575037
- ClinGen CA360265252
- ClinVar RCV003459065
- gnomAD rs1283575037
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.632
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available