R21C (p.Arg21Cys) variant of MSH2 (DNA mismatch repair protein Msh2)
R21C (p.Arg21Cys) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R21C (p.Arg21Cys) variant details
- p.Arg21Cys
- rs774708147
- ClinGen CA346728615
- ClinVar RCV000561569
- ExAC rs774708147
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.50
- MetaLR 0.82
- MetaSVM 0.78
- CADD 32.00
- EBI: Likely benign
- UniProt: Likely benign
- 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)