Q29P (p.Gln29Pro) variant of MSH3 (DNA mismatch repair protein Msh3)
Q29P (p.Gln29Pro) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
Q29P (p.Gln29Pro) variant details
- p.Gln29Pro
- rs1580537878
- ClinGen CA360265254
- ClinVar RCV002373410
- ClinVar RCV003103526
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.25
- AlphaMissense 0.06
- MetaLR 0.31
- MetaSVM -0.86
- CADD 14.80
- PolyPhen-2 0.00
- 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 3.6e-06)
- 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)