V23I (p.Val23Ile) variant of MSH3 (DNA mismatch repair protein Msh3)
V23I (p.Val23Ile) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
V23I (p.Val23Ile) variant details
- p.Val23Ile
- rs1353893324
- ClinGen CA360265184
- ClinVar RCV001056454
- ClinVar RCV002365713
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.30
- AlphaMissense 0.20
- MetaLR 0.72
- MetaSVM 0.48
- CADD 25.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)