R26Q (p.Arg26Gln) variant of MSH3 (DNA mismatch repair protein Msh3)
R26Q (p.Arg26Gln) in MSH3 (DNA mismatch repair protein Msh3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R26Q (p.Arg26Gln) variant details
- p.Arg26Gln
- rs780517196
- ClinGen CA3327429
- ClinVar RCV001026824
- ClinVar RCV001042443
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.39
- AlphaMissense 0.38
- MetaLR 0.63
- MetaSVM 0.16
- CADD 24.70
- PolyPhen-2 0.98
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-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)