R21G (p.Arg21Gly) variant of MSH2 (DNA mismatch repair protein Msh2)
R21G (p.Arg21Gly) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. 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.
R21G (p.Arg21Gly) variant details
- p.Arg21Gly
- rs774708147
- ClinGen CA039498
- ClinVar RCV003182949
- ExAC rs774708147
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- ESM-1b 0.73
- AlphaMissense 0.50
- MetaLR 0.82
- MetaSVM 0.78
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- 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)