G25C (p.Gly25Cys) variant of MSH2 (DNA mismatch repair protein Msh2)
G25C (p.Gly25Cys) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
G25C (p.Gly25Cys) variant details
- p.Gly25Cys
- rs746259256
- ClinGen CA022143
- cosmic curated COSV10956
- ClinVar RCV000165126
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.54
- MetaSVM -0.17
- PolyPhen-2 0.94
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)