M1R (p.Met1Arg) variant of MLH1 (DNA mismatch repair protein Mlh1)
M1R (p.Met1Arg) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Lynch syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs111052004
- ClinGen CA009606
- ClinVar RCV000075622
- ClinVar RCV002433578
- Uncertain significance
- Lynch syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- ESM-1b 1.00
- AlphaMissense 0.64
- ClinVar: Uncertain significance (Colorectal cancer, hereditary nonpolyposis, type 2)
- 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)