S8T (p.Ser8Thr) variant of MSH3 (DNA mismatch repair protein Msh3)
S8T (p.Ser8Thr) 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 published literature and structural context.
S8T (p.Ser8Thr) variant details
- p.Ser8Thr
- rs1313510221
- ClinGen CA360264799
- ClinVar RCV001044427
- ClinVar RCV003307837
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- AlphaMissense 0.07
- MetaLR 0.42
- MetaSVM -0.72
- PolyPhen-2 0.00
- SIFT 0.03
- MutPred 0.11
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- 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)