M1R (p.Met1Arg) variant of MSH2 (DNA mismatch repair protein Msh2)
M1R (p.Met1Arg) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Muir-Torré syndrome; Mismatch repair cancer syndrome 2; Lynch syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs876658825
- ClinGen CA10577911
- ClinVar RCV000220736
- ClinVar RCV001853531
- Uncertain significance
- Muir-Torré syndrome; Mismatch repair cancer syndrome 2; Lynch syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- ESM-1b 1.00
- AlphaMissense 0.83
- MetaLR 0.86
- MetaSVM 0.90
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (Muir-Torré syndrome; Mismatch repair cancer syndrome 2; Lynch sy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)