G18A (p.Gly18Ala) variant of MSH2 (DNA mismatch repair protein Msh2)
G18A (p.Gly18Ala) 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 0.69 / 1. The record also includes published literature and structural context.
G18A (p.Gly18Ala) variant details
- p.Gly18Ala
- rs1200418561
- ClinGen CA346728580
- ClinVar RCV003350728
- gnomAD rs1200418561
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- ESM-1b 1.00
- AlphaMissense 0.22
- MetaLR 0.78
- MetaSVM 0.69
- PolyPhen-2 0.08
- SIFT 0.03
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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)