T31A (p.Thr31Ala) variant of MSH3 (DNA mismatch repair protein Msh3)
T31A (p.Thr31Ala) in MSH3 (DNA mismatch repair protein Msh3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
T31A (p.Thr31Ala) variant details
- p.Thr31Ala
- rs1212322787
- ClinGen CA360265273
- ClinVar RCV000813159
- ClinVar RCV002372289
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.14
- AlphaMissense 0.06
- MetaLR 0.26
- MetaSVM -0.92
- CADD 5.85
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)