S30T (p.Ser30Thr) variant of MSH3 (DNA mismatch repair protein Msh3)
S30T (p.Ser30Thr) 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 0.41 / 1. The record also includes published literature and structural context.
S30T (p.Ser30Thr) variant details
- p.Ser30Thr
- rs1749192322
- ClinGen CA360265261
- ClinVar RCV003368174
- ClinVar RCV003669391
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- AlphaMissense 0.07
- MetaLR 0.39
- MetaSVM -0.75
- PolyPhen-2 0.00
- SIFT 0.09
- MutPred 0.17
- ClinVar: Uncertain significance (not provided; 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)