R4W (p.Arg4Trp) variant of MSH3 (DNA mismatch repair protein Msh3)
R4W (p.Arg4Trp) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R4W (p.Arg4Trp) variant details
- p.Arg4Trp
- rs761912573
- ClinGen CA3327416
- ClinVar RCV001245568
- ClinVar RCV004944952
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.40
- CADD 25.80
- PolyPhen-2 0.72
- SIFT 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)