M1V (p.Met1Val) variant of MSH2 (DNA mismatch repair protein Msh2)
M1V (p.Met1Val) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs267607911
- ClinGen CA019692
- ClinVar RCV000076335
- ClinVar RCV000165763
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- ESM-1b 1.00
- AlphaMissense 0.21
- MetaLR 0.77
- MetaSVM 0.68
- PolyPhen-2 0.52
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)