G674S (p.Gly674Ser) variant of MSH2 (DNA mismatch repair protein Msh2)
G674S (p.Gly674Ser) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G674S (p.Gly674Ser) variant details
- p.Gly674Ser
- rs63750234
- ClinGen CA46702303
- NCI-TCGA Cosmic COSV5187
- cosmic curated COSV51877
- Likely pathogenic
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.984
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Pathogenic (in LYNCH1)
- UniProt: Pathogenic (in LYNCH1)
- Structural context available
- Cited in: HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions. (PMID 12124176)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)