M1K (p.Met1Lys) variant of MLH1 (DNA mismatch repair protein Mlh1)
M1K (p.Met1Lys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs111052004
- ClinGen CA009594
- ClinVar RCV000075620
- ClinVar RCV003362685
- Uncertain significance
- Lynch syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- ESM-1b 1.00
- AlphaMissense 0.71
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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)