S39F (p.Ser39Phe) variant of MSH3 (DNA mismatch repair protein Msh3)
S39F (p.Ser39Phe) 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 not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S39F (p.Ser39Phe) variant details
- p.Ser39Phe
- rs2112797345
- ClinGen CA360265350
- ClinVar RCV001998218
- ClinVar RCV002331555
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.34
- AlphaMissense 0.10
- MetaLR 0.41
- MetaSVM -0.59
- CADD 15.60
- PolyPhen-2 0.79
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)