V23A (p.Val23Ala) variant of MSH3 (DNA mismatch repair protein Msh3)
V23A (p.Val23Ala) 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 0.65 / 1. The record also includes published literature and structural context.
V23A (p.Val23Ala) variant details
- p.Val23Ala
- rs2112797142
- ClinGen CA360265190
- ClinVar RCV002378060
- ClinVar RCV003120953
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- AlphaMissense 0.55
- MetaLR 0.71
- MetaSVM 0.36
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.24
- 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)