T31P (p.Thr31Pro) variant of MSH3 (DNA mismatch repair protein Msh3)
T31P (p.Thr31Pro) 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 0.39 / 1. The record also includes published literature and structural context.
T31P (p.Thr31Pro) variant details
- p.Thr31Pro
- rs1212322787
- ClinGen CA360265271
- ClinVar RCV002378948
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- AlphaMissense 0.06
- MetaLR 0.26
- MetaSVM -0.92
- PolyPhen-2 0.00
- SIFT 0.63
- MutPred 0.12
- 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)