C333F (p.Cys333Phe) variant of MSH2 (DNA mismatch repair protein Msh2)
C333F (p.Cys333Phe) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
C333F (p.Cys333Phe) variant details
- p.Cys333Phe
- rs63750828
- ClinGen CA346733123
- ClinVar RCV000791505
- ClinVar RCV002249499
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- Missense
- Variant Prioritization Score for Impact Estimate 0.955
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis)
- EBI: Pathogenic (in LYNCH1)
- UniProt: Pathogenic (in LYNCH1)
- 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)