A12P (p.Ala12Pro) variant of MSH3 (DNA mismatch repair protein Msh3)
A12P (p.Ala12Pro) 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.
A12P (p.Ala12Pro) variant details
- p.Ala12Pro
- rs1580537725
- ClinGen CA360264837
- ClinVar RCV003821236
- ClinVar RCV005377580
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- AlphaMissense 0.09
- MetaLR 0.37
- MetaSVM -0.81
- PolyPhen-2 0.00
- SIFT 0.37
- MutPred 0.15
- 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)