V23F (p.Val23Phe) variant of MSH3 (DNA mismatch repair protein Msh3)
V23F (p.Val23Phe) 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 0.64 / 1. The record also includes published literature and structural context.
V23F (p.Val23Phe) variant details
- p.Val23Phe
- rs1353893324
- ClinGen CA360265187
- ClinVar RCV001315937
- ClinVar RCV005372640
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- AlphaMissense 0.20
- MetaLR 0.72
- MetaSVM 0.48
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.26
- 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)