S36Y (p.Ser36Tyr) variant of MSH3 (DNA mismatch repair protein Msh3)
S36Y (p.Ser36Tyr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
S36Y (p.Ser36Tyr) variant details
- p.Ser36Tyr
- rs1470213668
- ClinGen CA360265322
- ClinVar RCV002424253
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- AlphaMissense 0.14
- MetaLR 0.51
- MetaSVM -0.28
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.17
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)